HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000379712.3:p.[Gln1227_Leu1254delinsArgProLeuProProLeuHisLeuLeuLeuProArgThrThrThrThrThrThrThrIleMetAlaIleAlaThrValAlaTrp;Val1256Cys] |
CA2820950202
ENST00000396435.7:c.3680del
|