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      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.551_560del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Lys184ArgfsTer?",
        "hgvsWellDefined": "NP_001182728.1:p.[Lys184_Ala191delinsArgLysThrAlaLeuTrpProPro;Thr194_His209delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg212_Arg216delinsValThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1802,
          "referenceAllele": "AATCTGACGA",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.314-1812_314-1803del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:n.314-1812_314-1803del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 975,
          "referenceAllele": "AATCTGACGA",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.314-985_314-976del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:n.314-985_314-976del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}