HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000537.3:p.[Ser215_Val218delinsValTrpTrpCys;Tyr220_Gly244delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrpAla] |
CA497925300
NM_000546.6:c.643del
|