HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000537.3:p.[Arg213_Val218delinsAspIleValTrpTrpCys;Tyr220_Met237delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn239_Cys242delinsValThrValPro] |
CA248848
NM_000546.6:c.636del
|