HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000394671.1:p.[Leu199del;Val202Leu;Cys203_Gly204insVal;Asp205_Cys220delinsThrThrArgProAlaAsnThrThrAlaCysAlaProValArgAlaAla;Gly222_Val228delinsAlaSerLeuSerAlaGln] |
CA2752797394
ENST00000417972.5:c.594del
|