HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000166.2:p.[Ser476_Ile477delinsTyrCys;Phe479_Leu482delinsHisGlnAlaHis;Pro484_Ala489delinsIleHisAlaTrpSer;Val491_Glu495delinsGlyArg;Lys497_Phe499del;Gln501_Asp506del] |
CA2584357471
NM_000175.3:c.1427_1428del
|