HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000374.1:p.[Glu229_Gly251delinsValLeuHisSerGlnGlnValArgArgLeuArgGlnTrpGluGluGlnGlyProGlnGlnGlnTrp;Lys253_Ala258delinsGluAlaSerGlySerSer] |
CA1022714385
NM_000383.4:c.684_685del
|