HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000469826.1:p.[Ala410_Val412delinsGlu;Cys414del;Cys416_Thr420delinsAlaSerProAlaAla;Thr422_Asn430delinsSerSerSerProProLeuTrpSerArg;Phe432_Ser439delinsAlaThrThrThrGlyPheGluArg] |
CA251238
ENST00000600573.5:c.1224_1228dup
|