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          "endIntronOffset": 144,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054482",
      "geneNCBI_id": 116435281,
      "geneSymbol": "EGILA",
      "hgvs": [
        "NR_174964.1:n.467-145A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785086"
    }
  ],
  "type": "nucleotide"
}