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varfish-org / mehari

VEP-like tool for sequence ontology and HGVS annotation of VCF files
MIT License
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Mehari resolves HGNC ID to tx but tx missing #380

Closed holtgrewe closed 4 months ago

holtgrewe commented 4 months ago

Describe the bug Mehari is able to resolve HGNC:29279 but cannot fetch transcripts.

To Reproduce Steps to reproduce the behavior:

  1. Look at https://reev.cubi.bihealth.org/internal/proxy/mehari/genes/txs?hgncId=HGNC:29279

Expected behavior Either the gene is unknown or transcripts should be available but not this conflict.

Screenshots N/A

Additional context N/A