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          "referenceAllele": "A",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006116",
      "geneNCBI_id": 3659,
      "geneSymbol": "IRF1",
      "hgvs": [
        "NR_149068.1:n.599-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 422,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006116",
      "geneNCBI_id": 3659,
      "geneSymbol": "IRF1",
      "hgvs": [
        "XM_011543379.2:c.113-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541681.1:n.113-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "endIntronDirection": "-",
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          "referenceAllele": "A",
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          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006116",
      "geneNCBI_id": 3659,
      "geneSymbol": "IRF1",
      "hgvs": [
        "NM_002198.3:c.365-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002189.1:n.365-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665401",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245414.9:c.365-2A>G"
          },
          "RefSeq": {
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        "protein": {
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          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}