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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "XR_001737134.2:n.1422-3410A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "endIntronDirection": "-",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 1411,
          "startIntronDirection": "-",
          "startIntronOffset": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "NM_000186.4:c.1337-3410A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000177.2:n.1337-3410A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674740",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367429.9:c.1337-3410A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000186.4:c.1337-3410A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356399.4:n.1337-3410A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000177.2:n.1337-3410A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}