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          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.1809dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Gln604ThrfsTer4",
        "hgvsWellDefined": "XP_011514056.1:p.[Gln604_Gln608del;Gly610_Ser619del;Leu621_Lys629del;Ser631_Val633del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2122,
          "referenceAllele": "",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.2052dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Gln685ThrfsTer4",
        "hgvsWellDefined": "NP_000483.3:p.[Gln685_Gln689del;Gly691_Ser700del;Leu702_Lys710del;Ser712_Val714del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2052dup"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2052dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Gln685ThrfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Gln685ThrfsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}