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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001395413.1:c.1706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382342.1:p.Ser569Leu",
        "hgvsWellDefined": "NP_001382342.1:p.Ser569Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000461988.6:c.1706C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001395413.1:c.1706C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419970.2:p.Ser569Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001382342.1:p.Ser569Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}