HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000484409.1:p.[His82_Val86delinsIleValTrpTrpCys;Tyr88_Met111delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925302
ENST00000504290.5:c.244del
|