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      "gene": "http://reg.genome.network/gene/GN010249",
      "geneNCBI_id": 6091,
      "geneSymbol": "ROBO1",
      "hgvs": [
        "NM_133631.4:c.383-45311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_598334.2:n.383-45311C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729116"
    }
  ],
  "type": "nucleotide"
}