HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000394742.1:p.[Cys65_Leu68delinsSerLeuPhePhePheMet;His70_Trp75delinsLeuLeuLeuGlyLeuAsp;Arg77del;Pro79_Leu88delinsValTrpArgAlaSerSerProAlaSer] |
CA2573159330
ENST00000457723.1:c.194del
|