HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000484409.1:p.[Ser83_Val86delinsValTrpTrpCys;Tyr88_Gly112delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrpAla] |
CA497925300
ENST00000504290.5:c.247del
|