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          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 6256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040144",
      "geneNCBI_id": 111082987,
      "geneSymbol": "CFTR-AS1",
      "hgvs": [
        "NR_149084.1:n.222-6256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645403693",
      "coordinates": [
        {
          "allele": "T",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.1364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Ala455Val",
        "hgvsWellDefined": "NP_000483.3:p.Ala455Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1364C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1364C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Ala455Val"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Ala455Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}