HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000252444.6:p.[Val165_Cys190delinsSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAlaGlnThrSerLysAlaVal;Lys193_Thr194delinsArgArg] |
CA2573050565
ENST00000252444.10:c.493del
|