{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7538025",
  "communityStandardTitle": [
    "NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1860468[alleleid]",
        "alleleId": 1860468,
        "preferredName": "NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1803440",
        "RCV": [
          "RCV002467110"
        ],
        "variationId": 1803440
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-45392371-G-A",
        "id": "15-45392371-G-A",
        "variant": "15:45392371 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45392371G>A?assembly=hg19",
        "id": "chr15:g.45392371G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45100173G>A?assembly=hg38",
        "id": "chr15:g.45100173G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147452041",
        "rs": 147452041
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45392371-G-A?dataset=gnomad_r2_1",
        "id": "15-45392371-G-A",
        "variant": "15:45392371 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45100173-G-A?dataset=gnomad_r3",
        "id": "15-45100173-G-A",
        "variant": "15:45100173 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45100173-G-A?dataset=gnomad_r4",
        "id": "15-45100173-G-A",
        "variant": "15:45100173 G / A"
      }
    ]
  },
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      "chromosome": "15",
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        {
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          "end": 45100173,
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          "start": 45100172
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "15",
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          "end": 45392371,
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          "start": 45392370
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      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
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        {
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS001599"
    }
  ],
  "transcriptAlleles": [
    {
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      "geneNCBI_id": 50506,
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      "referenceSequence": "http://reg.genome.network/refseq/RS752778",
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        "maneStatus": "MANE Select",
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          }
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS274132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 5675
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      ],
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      "geneSymbol": "DUOX2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS373759"
    },
    {
      "coordinates": [
        {
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          "end": 241,
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          "start": 240
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      ],
      "gene": "http://reg.genome.network/gene/GN013273",
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      "geneSymbol": "DUOX2",
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375621"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580368040",
      "coordinates": [
        {
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          "end": 3264,
          "referenceAllele": "C",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3264,
          "referenceAllele": "C",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828105093",
      "coordinates": [
        {
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          "end": 3264,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Arg1021Ter",
        "hgvsWellDefined": "NP_001350640.1:p.Arg1021_Phe1548delinsGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828105093",
      "coordinates": [
        {
          "allele": "T",
          "end": 3275,
          "referenceAllele": "C",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.2:c.3061C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Arg1021Ter",
        "hgvsWellDefined": "NP_001350640.1:p.Arg1021_Phe1548delinsGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.3061C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.3061C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Arg1021Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Arg1021Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580368040",
      "coordinates": [
        {
          "allele": "T",
          "end": 3275,
          "referenceAllele": "C",
          "start": 3274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.5:c.3061C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Arg1021Ter",
        "hgvsWellDefined": "NP_054799.4:p.Arg1021_Phe1548delinsGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727939"
    }
  ],
  "type": "nucleotide"
}