HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001171651.1:p.[Ser487_Ile488delinsTyrCys;Phe490_Leu493delinsHisGlnAlaHis;Pro495_Ala500delinsIleHisAlaTrpSer;Val502_Glu506delinsGlyArg;Lys508_Phe510del;Gln512_Asp517del] |
CA2584357471
NM_001184722.1:c.1460_1461del
|