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      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.416C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Thr139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.416C="
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.416C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Thr139="
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Thr139="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827306004",
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.2:c.539C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Thr180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}