HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000506904.1:p.[Gln517_Thr534delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu536_Ser543delinsArgLeuProLeuGlnGlnLeuGly;Asp545_Pro546delinsProArg] |
CA2580611220
ENST00000682650.1:c.1549_1550del
|