HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001357190.2:p.[Ala465_Trp471delinsProArgProArgSerArg;Glu473_Glu474del;Glu477delinsLysPro;Arg479_Arg481delinsLysAlaGly;Pro483_Lys488delinsGlyAlaHisGlyGlySer;Glu490_Pro493delinsSerGlnArgSer;Pro494_Pro495insArgArg] |
CA2573147439
NM_001370261.2:c.1393del
|