HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000426252.2:p.[Arg213_Val218delinsAspIleValTrpTrpCys;Tyr220_Met237delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn239_Cys242delinsValThrValPro] |
CA248848
ENST00000503591.2:c.636del
|