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      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.2745+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:n.2745+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3058,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3058,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.2988+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:n.2988+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2988+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2988+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:n.2988+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:n.2988+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}