{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7537948",
  "communityStandardTitle": [
    "NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter)"
  ],
  "externalRecords": {
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      {
        "active": false,
        "id": "COSM4986819"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620518[alleleid]",
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        "preferredName": "NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/631731",
        "RCV": [
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          "RCV001042121"
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      }
    ],
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        "variant": "15:45392025 G / A"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45392025G>A?assembly=hg19",
        "id": "chr15:g.45392025G>A"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45099827G>A?assembly=hg38",
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      "referenceSequence": "http://reg.genome.network/refseq/RS032924"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS523501"
    },
    {
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      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Arg1084Ter",
        "hgvsWellDefined": "NP_001350640.1:p.Arg1084_Phe1548delinsGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.3250C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.3250C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Arg1084Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Arg1084Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA913199186",
      "coordinates": [
        {
          "allele": "T",
          "end": 3464,
          "referenceAllele": "C",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.5:c.3250C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Arg1084Ter",
        "hgvsWellDefined": "NP_054799.4:p.Arg1084_Phe1548delinsGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727939"
    }
  ],
  "type": "nucleotide"
}