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"http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.2557G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA2825108044", "coordinates": [ { "allele": "A", "end": 2653, "referenceAllele": "G", "start": 2652 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.2633G>A" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Trp878Ter", "hgvsWellDefined": 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