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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.361-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.361-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:n.361-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:n.361-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.2:c.289-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:n.289-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712357"
    }
  ],
  "type": "nucleotide"
}