HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000439.2:p.[Arg829del;Arg831_Ala834delinsValAlaGlyHis;Leu836_Leu860delinsGlyGlnAlaSerProGluGluAspGluProGlnThrAsnHisGluAspGluTrpGlnLeuCysGlnGluAla] |
CA1139532301
NM_000448.3:c.2486_2490del
|