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      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.532G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093378",
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.509G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Arg170His",
        "hgvsWellDefined": "NP_000047.1:p.Arg170His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}