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          "endIntronOffset": 324,
          "referenceAllele": "C",
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          "startIntronDirection": "-",
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.12-325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:n.12-325C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "+",
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          "referenceAllele": "C",
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          "startIntronDirection": "+",
          "startIntronOffset": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.67+358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:n.67+358C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}