HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000594.2:p.[Ser470_Pro471insArg;Ala472_Tyr475delinsSerAlaThrSer;Pro477_Asp478delinsThr;Trp480_Lys481delinsGlyArg;Ser483_Phe496delinsValProProArgAlaProAlaSerProGlyArgArgProLeu;Glu498_Ala500delinsLysTrpPro] |
CA2685610290
NM_000603.4:c.1412del
|