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      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.2:c.5842A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Met1948Val",
        "hgvsWellDefined": "NP_001338456.1:p.Met1948Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719848"
    }
  ],
  "type": "nucleotide"
}