HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_005563.1:p.[Gln517_Thr534delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu536_Arg545delinsArgSerGlyHisAlaGlnAlaGlyAlaLeu] |
CA2580611220
NM_005572.4:c.1549_1550del
|