HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000292304.3:p.[Gln517_Thr534delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu536_Ser543delinsArgLeuProLeuGlnGlnLeuGly;Asp545_Pro546delinsProArg] |
CA2580611220
ENST00000347559.6:c.1549_1550del
|