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"http://reg.genome.network/refseq/RS002517" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.5:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000356405.4:p.Arg126Ter", "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.376C>T" }, "RefSeq": { "hgvs": "NM_024529.5:c.376C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Arg126Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Arg126Ter" } } } } ], "type": "nucleotide" }