HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001119589.1:p.[Ser83_Val86delinsValTrpTrpCys;Tyr88_Gly112delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrpAla] |
CA497925300
NM_001126117.1:c.247del
|