HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182729.1:p.[Cys513_Leu514insSer;Ala516_Asn520delinsArgArgSerThr;His522_Ser523delinsThrArg;Lys525_Cys528delinsSerLeuPro;Cys530del;Asp532_Leu536delinsAlaArgThr;Arg538_Cys543delinsCysCysTrpProGlyThr] |
CA2830773956
NM_001195800.2:c.1540del
|