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      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.477C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Ser159Arg",
        "hgvsWellDefined": "NP_001182732.1:p.Ser159Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}