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          "allele": "A",
          "end": 1710,
          "referenceAllele": "T",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.1295T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Leu432Ter",
        "hgvsWellDefined": "NP_001280033.1:p.Leu432_Thr461delinsArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822623",
      "coordinates": [
        {
          "allele": "A",
          "end": 1567,
          "referenceAllele": "T",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.1208T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Leu403Ter",
        "hgvsWellDefined": "NP_001280034.1:p.Leu403_Thr432delinsArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "T",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1810T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}