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          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.2:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:p.Arg199His",
        "hgvsWellDefined": "NP_001350533.1:p.Arg199His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720762"
    }
  ],
  "type": "nucleotide"
}