Repository navigation
Support to_hgvs for protein variants #633
Description
Example:
https://www.ncbi.nlm.nih.gov/clinvar/variation/2274894
id: ga4gh:VA.AIm-GH_iqp_bpcIVzi431fl7z-cQimNN
type: Allele
digest: AIm-GH_iqp_bpcIVzi431fl7z-cQimNN
location:
id: ga4gh:SL.wgFs8Z2Nk4uD7nq_gFbdYH1FhagXkMhL
type: SequenceLocation
digest: wgFs8Z2Nk4uD7nq_gFbdYH1FhagXkMhL
sequenceReference:
type: SequenceReference
refgetAccession: SQ.dvlWjX2CGulwfb2ehmkCFn02ah7tEEVB
start: 260
end: 261
state:
type: LiteralSequenceExpression
sequence: AShould come out as NP_060204.1:p.Val261Ala.
For now only support this for single-protein-residue changes.
Activity
developer-rpai commentedon Sep 20, 2026
I'm working on this — opened PR #654 which adds to_hgvs support for single-protein-residue changes (missense/nonsense substitutions and single-residue deletions). Happy to adjust scope based on maintainer feedback.