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"referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.545G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp182Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA913194888", "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "G", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.545G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Trp182Ter", "hgvsWellDefined": 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