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      "gene": "http://reg.genome.network/gene/GN002720",
      "geneNCBI_id": 50807,
      "geneSymbol": "ASAP1",
      "hgvs": [
        "NM_001247996.2:c.2552-196A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001234925.1:n.2552-196A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714581"
    }
  ],
  "type": "nucleotide"
}