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          }
        },
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          "Ensembl": {
            "hgvs": "ENSP00000302728.4:n.1477-2A>G"
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          "RefSeq": {
            "hgvs": "NP_000172.2:n.1477-2A>G"
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        }
      }
    },
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      "coordinates": [
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          "endIntronDirection": "-",
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          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
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      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.1039-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:n.1039-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "coordinates": [
        {
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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.907-2A>G"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "-",
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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      "geneSymbol": "GUSB",
      "hgvs": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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      "geneSymbol": "GUSB",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}