HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001362748.1:p.[Phe386_Val413delinsLeuThrThrThrArgAsnLeuThrLeuGlnArgPheThrHisLeuSerGlnLeuArgArgGlySerProSerGlyCysCys;Phe417_Asp418del] |
CA2576694276
NM_001375819.1:c.1158_1164del
|