HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000421821.1:p.[Gln418_Thr435delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu437_Arg446delinsArgSerGlyHisAlaGlnAlaGlyAlaLeu] |
CA2580611220
ENST00000473598.6:c.1252_1253del
|