HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001001958.1:p.[Tyr200del;Val202_Leu211delinsPheGlyAspGlnProValArgCysCysSer;Gly213_Ile215delinsLeuTrpAspHis;Ser217_Pro229delinsLeuLeuHisThrAsnCysLeuLeuCysHisGluAsnSer] |
CA2588224352
NM_001001958.1:c.598dup
|