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{ "coordinates": [ { "allele": "T", "end": 18624, "referenceAllele": "C", "start": 18623 } ], "hgvs": [ "NG_012691.1:g.18624C>T", "LRG_507:g.18624C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002517" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.5:c.415C>T" ], "proteinEffect": { "hgvs": "ENSP00000356405.4:p.Arg139Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS266385" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000482484.1:n.667C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322165" }, { "@id": "http://reg.genome.network/allele/PA2499290281", "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.4:c.415C>T", "LRG_507t1:c.415C>T" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Arg139Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS037799" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.2:c.415C>T" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Arg139Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS698706", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.415C>T" }, "RefSeq": { "hgvs": "NM_024529.5:c.415C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Arg139Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Arg139Ter" } } } } ], "type": "nucleotide" }