{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406378491",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615829[alleleid]",
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        "preferredName": "NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627441",
        "RCV": [
          "RCV000770817"
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        "variationId": 627441
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45871950C>A?assembly=hg19",
        "id": "chr19:g.45871950C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45368692C>A?assembly=hg38",
        "id": "chr19:g.45368692C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/964247601",
        "rs": 964247601
      }
    ]
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      "chromosome": "19",
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        {
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    },
    {
      "chromosome": "19",
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        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "19",
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
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      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
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      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
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      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
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    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS012110"
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      "referenceSequence": "http://reg.genome.network/refseq/RS131004"
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    {
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      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Glu74Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Glu74_Leu734delinsLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Glu59Ter",
        "hgvsWellDefined": "XP_016881956.1:p.Glu59_Leu719delinsLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.345G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.345G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913198156",
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.298G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Glu100Ter",
        "hgvsWellDefined": "NP_000391.1:p.Glu100_Leu760delinsLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.298G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.298G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Glu100Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Glu100Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915973379",
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.2:c.226G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:p.Glu76Ter",
        "hgvsWellDefined": "NP_001124339.1:p.Glu76_Pro405delinsLysLeuProPheLeuGlyLeuAlaLeuSerSerArgLysAsnLeuCysIleHisProGluValThrProLeuArgPheGlyLysAspValAspGlyLysCysHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712357"
    }
  ],
  "type": "nucleotide"
}