HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Gln474_Leu479delinsHisProGlyProArgArg;Val481_Thr491delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser493_Leu495delinsArgLeuCysPro;Thr497_Asp502delinsHisCysLeuCysCysGlyTyr] |
CA10585441
NM_000527.5:c.1415_1418dup
|