HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000235.2:p.[Glu473_Trp476delinsArgSerArg;Glu478_Glu479del;Glu482delinsLysPro;Arg484_Arg486delinsLysAlaGly;Pro488_Lys493delinsGlyAlaHisGlyGlySer;Glu495_Pro498delinsSerGlnArgSer;Pro500_Lys502delinsArgArgProArg] |
CA2695214520
NM_000244.3:c.1416del
|