HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000471851.1:p.His1103delinsThrArgGlyArgAlaAlaProGlyAlaThrAlaGlyGlyValSerAlaAlaSerProAlaAlaGlyArgProGluGlyAlaProGlyGly |
CA2588116123
ENST00000597188.6:c.3307del
|