HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001745.2:p.[Thr104_Ala115delinsTyrAlaLeuAlaLeuGlnGlnAspProAlaHisArg;Lys117_Leu121delinsGlnGlyGlyGlyProArg;Asp123_Val132delinsCysSerArgTrpHisSerGlyHisCysAsp] |
CA913189260
NM_001754.5:c.308dup
|