HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000537.3:p.[Cys124_Ser127delinsAlaArgThr;Ala129del;Asn131_Phe134delinsProSerThrArg;Gln136_Cys141delinsPheAlaAsnTrpProArg;Val143_Thr150delinsAlaLeuCysSerCysGlyLeuIle;Pro151_Pro152insHis;Pro152_Pro153insArg] |
CA497925849
NM_000546.6:c.370del
|