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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_199436.2:c.1120A="
      ],
      "proteinEffect": {
        "hgvs": "NP_955468.1:p.Ile374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729993"
    }
  ],
  "type": "nucleotide"
}