HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000478499.1:p.[His82_Val86delinsIleValTrpTrpCys;Tyr88_Met111delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925302
ENST00000510385.5:c.244del
|