HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000425104.1:p.[Ser83_Val86delinsMetTrpTrpCys;Tyr88_Gly112delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrpAla] |
CA497925299
ENST00000509690.5:c.248del
|