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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.233del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Arg78LeufsTer28",
        "hgvsWellDefined": "NP_001182729.1:p.[Arg78_Gln85delinsLeuSerThrAlaAla;Trp87_Asp90delinsLeuSerSerGly;Gln92_Glu101delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly103_Leu107delinsThrSerLysAlaVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.233del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Arg78LeufsTer?",
        "hgvsWellDefined": "NP_001182732.1:p.[Arg78_Gln85delinsLeuSerThrAlaAla;Trp87_Asp90delinsLeuSerSerGly;Gln92_Glu101delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly103_Pro105delinsThrSerLysAla;Ala107delinsLeuTrpPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}