HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000235.2:p.[Ala470_Trp476delinsArgProArgSerArg;Glu478_Glu479del;Glu482delinsLysPro;Arg484_Arg486delinsLysAlaGly;Pro488_Lys493delinsGlyAlaHisGlyGlySer;Glu495_Pro498delinsSerGlnArgSer;Pro499_Pro500insArgArg] |
CA2580084432
NM_000244.3:c.1408_1411del
|