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- depending on an additional microservice or existing API to convert HGVS to `g` notation
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Currently hgvs objects are generated only on the basis of the parseability of the hgvs string. No variant validation is being done.
Expected result:
All hgvs variants should be consistent to a ref…
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First: Thank you. Making data easily available is a great service to the community!
# Issue
MyVariant.info accepts invalid (MyVariant.info-specific) HGVS and does not accept valid HGVS. Since HG…
reece updated
3 years ago
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Bystro currently supports HGVS search in coding regions.
The questions are:
1) Should we expand HGVS support to non-coding regions.
2) Should we permanently store the HGVS notation in a tab-delim…
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Two TET2 variants in cis were obtained: NM_001127208.2:c.1484_1486del and NM_001127208.2:c.1489del
According to HGVS recommendations, these should be described as: NM_001127208.2:c.[1484_1486del;14…
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Searched for "IDH2: NM_002168.3:c.419G>A"
View details in Rollbar: [https://rollbar.com/jimmy.andrews/VariantGrid/items/3101/](https://rollbar.com/jimmy.andrews/VariantGrid/items/3101/)
```
Traceba…
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> We're specifically hoping to sort by the consequence on the amino acid chain (e.g. p.Trp417Ter is a nonsense variant, c.1225-1G>T is a splicing variant, and p.Lys464SerfsTer24 is a frameshift varian…
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buske updated
7 years ago
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The current [hgvs_tools.py](https://github.com/ga4gh/vrs-python/blob/efbce313f501e86f9cc42565568d9d08a1cfaa85/src/ga4gh/vrs/utils/hgvs_tools.py#L16) does not consider the handling of hgvs expressions …
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**Describe the bug**
Brackets are gone for any protein position. As these are predictions they need to be there according to HGVS nomenclature
**To Reproduce**
Steps to reproduce the behavior:
1…