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      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.13091C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ser4364Leu",
        "hgvsWellDefined": "NP_001278789.1:p.Ser4364Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}