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      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001015051.4:c.938C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001015051.3:p.Pro313Gln",
        "hgvsWellDefined": "NP_001015051.3:p.Pro313Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711368"
    }
  ],
  "type": "nucleotide"
}