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      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.547C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Arg183Gly",
        "hgvsWellDefined": "NP_000047.1:p.Arg183Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}