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          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.1400T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Leu467Pro",
        "hgvsWellDefined": "NP_000483.3:p.Leu467Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1400T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1400T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Leu467Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Leu467Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}