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  "@id": "http://reg.genome.network/allele/CA406374441",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675059",
        "RCV": [
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        "variationId": 2675059
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45867767G>C?assembly=hg19",
        "id": "chr19:g.45867767G>C"
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      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45364509G>C?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/112910027",
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      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
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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"
    },
    {
      "coordinates": [
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        "hgvsWellDefined": "ENSP00000375808.3:p.Tyr133_Leu682delinsLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
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          "start": 710
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      ],
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      "geneNCBI_id": 2068,
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      "hgvs": [
        "ENST00000391945.8:c.633C>G"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
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      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
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      "geneNCBI_id": 2068,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
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      "geneNCBI_id": 2068,
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      "hgvs": [
        "ENST00000586131.5:c.561C>G"
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      "proteinEffect": {
        "hgvs": "ENSP00000464887.1:p.Tyr187Ter",
        "hgvsWellDefined": "ENSP00000464887.1:p.Tyr187Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 177,
          "referenceAllele": "C",
          "start": 586,
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          "startIntronOffset": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
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      "hgvs": [
        "ENST00000586441.1:n.587-178C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS389391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "endIntronDirection": "-",
          "endIntronOffset": 177,
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        }
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS389602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "startIntronOffset": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS392789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814493",
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        {
          "allele": "G",
          "end": 680,
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          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.633C>G",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825743881",
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.1:c.561C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001124339.1:p.Tyr187_Pro405delinsLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.555C>G"
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      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Tyr185Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Tyr185_Leu734delinsLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_935763.1:n.680C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.555C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011524913.1:p.Tyr185_Leu734delinsLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 576,
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          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.510C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Tyr170Ter",
        "hgvsWellDefined": "XP_016881956.1:p.Tyr170_Leu719delinsLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.680C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.680C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814493",
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_000391.1:p.Tyr211_Leu760delinsLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.633C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.633C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Tyr211Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Tyr211Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825743881",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.2:c.561C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:p.Tyr187Ter",
        "hgvsWellDefined": "NP_001124339.1:p.Tyr187_Pro405delinsLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712357"
    }
  ],
  "type": "nucleotide"
}