HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_542379.1:p.[Glu107_Gly113delinsGlyThrSerGlyAlaAlaTrpThr;His116_Trp119delinsSerIleLeuVal;Ala121_Pro122del;Asp124_Glu126delinsPheGlyGln;Tyr128_Val131delinsArgValGlnTrpArg;Leu133_Arg136delinsProAlaPhePro] |
CA2575472209
NM_080648.3:c.319dup
|