HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000453696.2:p.[Glu229_Ala232delinsLysThrAlaLeuTrpProPro;Thr235_His250delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg253_Glu258delinsValThrGlyAsn] |
CA2582473382
ENST00000559340.2:c.685del
|