HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000507904.1:p.His122_Lys123delinsGlnSerGluTrpGlnArgAlaPheProGlySerGlySerGlnProValLeuGlyGluGlnArgGlyProAlaValAlaThrGlySerVal |
CA2577503119
ENST00000682790.1:c.366del
|