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      "hgvs": [
        "NM_001354919.2:c.529T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Ser177Pro",
        "hgvsWellDefined": "NP_001341848.1:p.Ser177Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}