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      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.9530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Ile3177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}