HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000438689.2:p.[Asn516_Ala528delinsGluSerLeuTrpGluCysTrpProProAlaArgArg;Lys530Arg;Leu532_Arg535delinsThrAlaGluAla;Leu538delinsArgAla;Ser540_Leu542delinsGlnArgProGlu;Leu544Gln] |
CA2697559354
ENST00000543245.6:c.1544dup
|