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      "geneNCBI_id": 60528,
      "geneSymbol": "ELAC2",
      "hgvs": [
        "NM_173717.2:c.1386C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776065.1:p.Tyr462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729599"
    }
  ],
  "type": "nucleotide"
}