HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Val79_Cys104delinsSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAlaGlnThrSerLysAlaVal;Lys107_Thr108delinsArgArg] |
CA2573050565
NM_000527.5:c.235del
|