HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Cys95_Pro105delinsTrpArgGlnArgLeuArgArgAlaArgLeuSer;Lys107_Ile122delinsGlnAspValLeuProGlyArgValSerLeuProArgTrpGluValHisLeu;Arg124Ala] |
CA2695223185
NM_000527.5:c.284dup
|