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      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.1279C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Arg427Trp",
        "hgvsWellDefined": "NP_001182729.1:p.Arg427Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826217077",
      "coordinates": [
        {
          "allele": "T",
          "end": 1488,
          "referenceAllele": "C",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.1402C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Arg468Trp",
        "hgvsWellDefined": "NP_001182732.1:p.Arg468Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}