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          "allele": "C",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 962,
          "referenceAllele": "T",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.314-963T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:n.314-963T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}