HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000349297.5:p.[Asn493_Ala505delinsGluSerLeuTrpGluCysTrpProProAlaArgArg;Lys507Arg;Leu509_Arg512delinsThrAlaGluAla;Leu515delinsArgAla;Ser517_Leu519delinsGlnArgProGlu;Leu521Gln] |
CA2697559354
ENST00000356839.10:c.1475dup
|