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      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_001364837.1:c.1494+476A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351766.1:n.1494+476A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1569,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "A",
          "start": 1569,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_005956.4:c.1494+476A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005947.3:n.1494+476A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652337.1:c.1494+476A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005956.4:c.1494+476A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498336.1:n.1494+476A>C"
          },
          "RefSeq": {
            "hgvs": "NP_005947.3:n.1494+476A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}