HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000423862.1:p.[Arg120_Val125delinsAspIleValTrpTrpCys;Tyr127_Met144delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn146_Cys149delinsValThrValPro] |
CA248848
ENST00000514944.5:c.357del
|