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        }
      }
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "endIntronDirection": "-",
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          "referenceAllele": "T",
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          "startIntronDirection": "-",
          "startIntronOffset": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003513",
      "geneNCBI_id": 2132,
      "geneSymbol": "EXT2",
      "hgvs": [
        "NM_001178083.3:c.1837-51T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171554.1:n.1837-51T="
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      "referenceSequence": "http://reg.genome.network/refseq/RS713566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
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      ],
      "gene": "http://reg.genome.network/gene/GN003513",
      "geneNCBI_id": 2132,
      "geneSymbol": "EXT2",
      "hgvs": [
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS726239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
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        }
      ],
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      "geneNCBI_id": 2132,
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      "referenceSequence": "http://reg.genome.network/refseq/RS726240"
    }
  ],
  "type": "nucleotide"
}