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          "allele": "T",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "C",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.563+119C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}