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      "gene": "http://reg.genome.network/gene/GN001392",
      "geneNCBI_id": 777,
      "geneSymbol": "CACNA1E",
      "hgvs": [
        "NM_001205294.2:c.2104G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001192223.1:p.Ala702Thr",
        "hgvsWellDefined": "NP_001192223.1:p.Ala702Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679905"
    }
  ],
  "type": "nucleotide"
}