HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001119584.1:p.[Arg213_Val218delinsAspIleValTrpTrpCys;Tyr220_Met237delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn239_Cys242delinsValThrValPro] |
CA248848
NM_001126112.3:c.636del
|