HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000453557.1:p.[Asp227_Ala232delinsAlaArgLysThrAlaLeuTrpProPro;Thr235_His250delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg253_Asp256delinsValThr] |
CA2497030129
ENST00000557933.5:c.680del
|