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          "allele": "TGCATTC",
          "end": 336,
          "referenceAllele": "",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.2:c.244_250dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Pro84LeufsTer?",
        "hgvsWellDefined": "NP_001182727.1:p.[Pro84_Gln92delinsLeuHisSerSerValLeuGlu;Asp94_Asn97delinsArgTrpProSer;Ser99_Glu101delinsLeuArg;Gly103_Cys109delinsArgLeuArgArgAlaArgLeu;Ser110_Gln111insPro;Glu113delinsValLeuProGlyArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679343"
    },
    {
      "coordinates": [
        {
          "allele": "TGCATTC",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 2378,
          "referenceAllele": "",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.190+2372_190+2378dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:n.190+2372_190+2378dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "coordinates": [
        {
          "allele": "TGCATTC",
          "end": 336,
          "referenceAllele": "",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.244_250dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Pro84LeufsTer?",
        "hgvsWellDefined": "NP_001182729.1:p.[Pro84_Cys104delinsLeuHisSerSerValLeuGluValArgTrpProSerGlyLeuArgGlnArgLeuArgArgAlaArg;Leu105_Thr106insSerAsp;Cys108_Glu109delinsArg;Pro111_Lys113delinsThrGlnGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "coordinates": [
        {
          "allele": "TGCATTC",
          "end": 336,
          "referenceAllele": "",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.244_250dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Pro84LeufsTer31",
        "hgvsWellDefined": "NP_001182732.1:p.[Pro84_Gln92delinsLeuHisSerSerValLeuGlu;Asp94_Asn97delinsArgTrpProSer;Ser99_Glu101delinsLeuArg;Gly103_Val106delinsArgLeuArgArg;Thr108delinsArgLeuSer;Arg110_Glu113delinsGlyHisLeuSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}