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        "hgvs": "XP_011514055.1:p.Lys602AsnfsTer?",
        "hgvsWellDefined": "XP_011514055.1:p.[Lys602_Phe612delinsAsnAsnLeuLeuAsnArgLeuGluSerLeu;Glu614del;Arg616del;Asn618_Ser619delinsGlyArg;Asn622_Pro623delinsPheSer;Asn625Gln;Ile627_Val633delinsThrLeuTyrGluAsnPheProLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3192,
          "referenceAllele": "AAAA",
          "start": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.1806_1809del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Lys602AsnfsTer?",
        "hgvsWellDefined": "XP_011514056.1:p.[Lys602_Phe612delinsAsnAsnLeuLeuAsnArgLeuGluSerLeu;Glu614del;Arg616del;Asn618_Ser619delinsGlyArg;Asn622_Pro623delinsPheSer;Asn625Gln;Ile627_Val633delinsThrLeuTyrGluAsnPheProLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2122,
          "referenceAllele": "AAAA",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.2049_2052del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Lys683AsnfsTer?",
        "hgvsWellDefined": "NP_000483.3:p.[Lys683_Phe693delinsAsnAsnLeuLeuAsnArgLeuGluSerLeu;Glu695del;Arg697del;Asn699_Ser700delinsGlyArg;Asn703_Pro704delinsPheSer;Asn706Gln;Ile708_Val714delinsThrLeuTyrGluAsnPheProLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2049_2052del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2049_2052del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Lys683AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Lys683AsnfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}