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            "hgvs": "ENSP00000302728.4:n.724+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:n.724+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 504,
          "endIntronDirection": "+",
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          "referenceAllele": "G",
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          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.474+436G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:n.474+436G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
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          "endIntronDirection": "+",
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.154+1G>C"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "+",
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          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.67+826G>C"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "+",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}