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      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322007.2:c.2007C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308936.1:p.Asn669Lys",
        "hgvsWellDefined": "NP_001308936.1:p.Asn669Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718053"
    }
  ],
  "type": "nucleotide"
}