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      "MANE": {
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        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.526C>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Leu176Phe"
          }
        }
      }
    },
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      "coordinates": [
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          "endIntronDirection": "+",
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          "referenceAllele": "C",
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          "startIntronDirection": "+",
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      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "coordinates": [
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          "endIntronDirection": "-",
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      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
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      "coordinates": [
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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/RS682971"
    },
    {
      "coordinates": [
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          "referenceAllele": "C",
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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"
}