HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Asp227_Ala232delinsAlaArgLysThrAlaLeuTrpProPro;Thr235_His250delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg253_Asp256delinsValThr] |
CA2497030129
NM_000527.5:c.680del
|