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      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.413T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Leu138Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}