HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001244303.1:p.[Gln405_Thr422delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu424_Arg433delinsArgSerGlyHisAlaGlnAlaGlyAlaLeu] |
CA2580611220
NM_001257374.3:c.1213_1214del
|