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        "hgvs": "XP_011514054.1:p.Gln1412Ter",
        "hgvsWellDefined": "XP_011514054.1:p.Gln1412_Tyr1449delinsIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4366,
          "referenceAllele": "C",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.3901C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Gln1301Ter",
        "hgvsWellDefined": "XP_011514055.1:p.Gln1301_Leu1399delinsIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5284,
          "referenceAllele": "C",
          "start": 5283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.3901C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Gln1301Ter",
        "hgvsWellDefined": "XP_011514056.1:p.Gln1301_Leu1399delinsIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA327425",
      "coordinates": [
        {
          "allele": "T",
          "end": 4214,
          "referenceAllele": "C",
          "start": 4213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.4144C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Gln1382Ter",
        "hgvsWellDefined": "NP_000483.3:p.Gln1382_Leu1480delinsIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.4144C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.4144C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Gln1382Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Gln1382Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}