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      "geneSymbol": "GLT8D2",
      "hgvs": [
        "NM_031302.5:c.71A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_112592.1:p.Tyr24Cys",
        "hgvsWellDefined": "NP_112592.1:p.Tyr24Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728762"
    }
  ],
  "type": "nucleotide"
}