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        "hgvs": "NP_694534.1:n.-1-53658A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 1187,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001261415.3:c.8+1187A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248344.1:n.8+1187A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715013"
    }
  ],
  "type": "nucleotide"
}