HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000454071.1:p.[Glu228_Ala232delinsArgLysThrAlaLeuTrpProPro;Thr235_His250delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg253_Arg257delinsValThrGly] |
CA10585079
ENST00000558518.6:c.682del
|