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        "hgvsWellDefined": "NP_001280034.1:p.Asp271Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "endIntronDirection": "-",
          "endIntronOffset": 2381,
          "referenceAllele": "A",
          "start": 1421,
          "startIntronDirection": "-",
          "startIntronOffset": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1422-2382A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}