HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001269554.1:p.[Gln517_Thr534delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu536_Arg545delinsArgSerGlyHisAlaGlnAlaGlyAlaLeu] |
CA2580611220
NM_001282625.2:c.1549_1550del
|