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"http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.743G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp248Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.743G>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.743G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Trp248Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Trp248Ter" } } } } ], "type": "nucleotide" }