HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000488924.1:p.[Arg174_Val179delinsAspIleValTrpTrpCys;Tyr181_Met198delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn200_Cys203delinsValThrValPro] |
CA248848
ENST00000635293.1:c.519del
|