HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Asp227del;Glu229_Cys231delinsAspLysSer;Val233_Ala234delinsArgLys;Cys236_Arg237delinsAlaLeuTrp;Asp239_Cys243delinsProValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Asp256delinsMetAlaAlaGlySerValThr] |
CA2695223214
NM_000527.5:c.680_681insGGACAAATCTG
|