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          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.2486+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:n.2486+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.2486+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.2486+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:n.2486+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:n.2486+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2480,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2480,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.2339+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:n.2339+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}