Closed lynnpais closed 4 months ago
We generally do not have the clingen allele identifier for most seqr variants, it would be hard to add it. For MVP lets use hgvs or rsid
actually not possible to link without CAID, blocked on adding it in the pipeline
done. Note this is only available for variants with both RSID and CAID
Is your feature request related to a problem? Please describe. Add a link to LitVar to improve the ability to search for variants in literature.
Describe the solution you'd like Add a link to Litvar2 at the end of the current options (PubMed, Mastermind, etc.) we have to search the literature for a specific variant. We can use the ClinGen allele identifier to search variants. Here's an example of the Litvar page for the p.T995I variant in NLRP1 - https://www.ncbi.nlm.nih.gov/research/litvar2/docsum?variant=litvar@CA8326971%23rs34733791%23%23&query=CA8326971
Describe alternatives you've considered NA
Additional context Requested by an AnVIL user, but is also useful to other analysts.