{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285681",
  "communityStandardTitle": [
    "NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter)"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1312799",
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101458[alleleid]",
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95560",
        "RCV": [
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          "RCV000701675"
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        "variationId": 95560
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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        }
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS763356"
    },
    {
      "coordinates": [
        {
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          "start": 2014
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS764137"
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      "referenceSequence": "http://reg.genome.network/refseq/RS265625"
    },
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      "coordinates": [
        {
          "allele": "A",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS302983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      ],
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        "ENST00000627772.2:n.326G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS406951"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285682",
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        {
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      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "hgvs": [
        "NM_014141.5:c.2153G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_054860.1:p.Trp718_Ile1331delinsGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 818
        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006715982.1:p.Trp214_Ile827delinsGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA285682",
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      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Trp718Ter",
        "hgvsWellDefined": "NP_054860.1:p.Trp718_Ile1331delinsGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.2153G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.2153G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Trp718Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Trp718Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}