HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001119588.1:p.[His82_Val86delinsLeuValTrpTrpCys;Tyr88_Met111delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925301
NM_001126116.1:c.245del
|