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      ],
      "gene": "http://reg.genome.network/gene/GN011118",
      "geneNCBI_id": 6607,
      "geneSymbol": "SMN2",
      "hgvs": [
        "NM_022875.3:c.821C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_075013.1:p.Thr274Ser",
        "hgvsWellDefined": "NP_075013.1:p.Thr274Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698602"
    }
  ],
  "type": "nucleotide"
}