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        "hgvsWellDefined": "XP_011514053.1:p.Glu1401_Leu1510delinsProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4243,
          "referenceAllele": "G",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.4201G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Glu1401Ter",
        "hgvsWellDefined": "XP_011514054.1:p.Glu1401_Tyr1449delinsProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4333,
          "referenceAllele": "G",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.3868G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Glu1290Ter",
        "hgvsWellDefined": "XP_011514055.1:p.Glu1290_Leu1399delinsProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5251,
          "referenceAllele": "G",
          "start": 5250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.3868G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Glu1290Ter",
        "hgvsWellDefined": "XP_011514056.1:p.Glu1290_Leu1399delinsProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA327405",
      "coordinates": [
        {
          "allele": "T",
          "end": 4181,
          "referenceAllele": "G",
          "start": 4180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.4111G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Glu1371Ter",
        "hgvsWellDefined": "NP_000483.3:p.Glu1371_Leu1480delinsProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.4111G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.4111G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Glu1371Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Glu1371Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}