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"http://reg.genome.network/refseq/RS017935" }, { "@id": "http://reg.genome.network/allele/PA645495291", "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "NM_005123.3:c.526C>T" ], "proteinEffect": { "hgvs": "NP_005114.1:p.Arg176Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS105992" }, { "coordinates": [ { "allele": "T", "end": 519, "endIntronDirection": "-", "endIntronOffset": 2351, "referenceAllele": "C", "start": 519, "startIntronDirection": "-", "startIntronOffset": 2352 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "XM_011539041.1:c.476-2352C>T" ], "proteinEffect": { "hgvs": "XP_011537343.1:n.476-2352C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS105993" }, { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "XM_011539042.1:c.556C>T" ], "proteinEffect": { "hgvs": "XP_011537344.1:p.Arg186Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS679986" }, { "coordinates": [ { "allele": "T", "end": 828, "endIntronDirection": "-", "endIntronOffset": 2351, "referenceAllele": "C", "start": 828, "startIntronDirection": "-", "startIntronOffset": 2352 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "NM_001206978.2:c.446-2352C>T" ], "proteinEffect": { "hgvs": "NP_001193907.1:n.446-2352C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS679987" }, { "@id": "http://reg.genome.network/allele/PA2826291784", "coordinates": [ { "allele": "T", "end": 584, "referenceAllele": "C", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "NM_001206992.2:c.556C>T" ], "proteinEffect": { "hgvs": "NP_001193921.1:p.Arg186Ter", "hgvsWellDefined": 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"@id": "http://reg.genome.network/allele/PA916005495", "coordinates": [ { "allele": "T", "end": 584, "referenceAllele": "C", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "NM_001206993.2:c.556C>T" ], "proteinEffect": { "hgvs": "NP_001193922.1:p.Arg186Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS679990" }, { "@id": "http://reg.genome.network/allele/PA645495291", "coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "C", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "NM_005123.4:c.526C>T" ], "proteinEffect": { "hgvs": "NP_005114.1:p.Arg176Ter", "hgvsWellDefined": 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"coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "C", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN007967", "geneNCBI_id": 9971, "geneSymbol": "NR1H4", "hgvs": [ "NR_135146.2:n.909C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703595" } ], "type": "nucleotide" }