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        "hgvsWellDefined": "ENSP00000423550.1:p.Arg77_Glu1061delinsHisGlnIleGlnAlaValGluProSerAlaGlnAlaLeuGluLeuGlnGlyLeuGlyValAspValTyrAspGlnAspValLeuGluGlnGlyValLeuGlnGlnValAspAsnAlaIleHisGluAlaSerArgAlaSerGlnLeuValAspValGluLysGluTyrArgSerValLeuAspAspLeuThrSerCysThrThrSerLeuArgGlnIleAsnLysIleIleGluGlnLeuSerProGlnAlaAlaThrSerArgAspIleAsnArgLysLeuAspSerValLysArgGlnLysTyrAsnLysGluGlnGlnLeuLysLysIleThrAlaLysGlnLysHisLeuGlnAlaIleLeuGlyGlyAlaGluValLysIleGluLeuAspHisAlaSerLeuGluGluAspAlaGluProGlyProSerSerLeuGlySerMetLeuMetProValGlnGluThrAlaTrpGluGluLeuIleArgThrGlyGlnMetThrProPheGlyThrGlnIleProGlnLysGlnGluLysLysProArgLysIleMetLeuAsnGluAlaSerGlyPheGluLysTyrLeuAlaAspGlnAlaLysLeuSerPheGluArgLysLysGlnGlyCysAsnLysArgAlaAlaArgLysAlaProAlaProValThrProProAlaProValGlnAsnLysAsnLysProAsnLysLysAlaArgValLeuSerLysLysGluGluArgLeuLysLysHisIleLysLysLeuGlnLysArgAlaLeuGlnPheGlnGlyLysValGlyLeuProLysAlaArgArgProTrpGluSerAspMetArgProGluAlaGluGlyAspSerGluGlyGluGluSerGluTyrPheProThrGluGluGluGluGluGluGluAspAspGluValGluGlyAlaGluAlaAspLeuSerGlyAspGlyThrAspTyrGluLeuLysProLeuProLysGlyGlyLysArgGlnLysLysValProValGlnGluIleAspAspAspPhePheProSerSerGlyGluGluAlaGluAlaAlaSerValGlyGluGlyGlyGlyGlyGlyArgLysValGlyArgTyrArgAspAspGlyAspGluAspTyrTyrLysGlnArgLeuSerProLysMetProArgThrLeuSerLeuHisGluIleThrAspLeuLeuGluThrAspAspSerIleGluAlaSerAlaIleValIleGlnProProGluAsnAlaThrAlaProValSerAspGluGluSerGlyAspGluGluGlyGlyThrIleAsnAsnLeuProGlySerLeuLeuHisThrAlaAlaTyrLeuIleGlnAspGlySerAspAlaGluSerAspSerAspAspProSerTyrAlaProLysAspAspSerProAspGluValProSerThrPheThrValGlnGlnProProProSerArgArgArgLysMetThrLysIleLeuCysLysTrpLysLysAlaAspLeuThrValGlnProValAlaGlyArgValThrAlaProProAsnAspPhePheThrValMetArgThrProThrGluIleLeuGluLeuPheLeuAspAspGluValIleGluLeuIleValLysTyrSerAsnLeuTyrAlaCysSerLysGlyValHisLeuGlyLeuThrSerSerGluPheLysCysPheLeuGlyIleIlePheLeuSerGlyTyrValSerValProArgArgArgMetPheTrpGluGlnArgThrAspValHisAsnValLeuValSerAlaAlaMetArgArgAspArgPheGluThrIlePheSerAsnLeuHisValAlaAspAsnAlaAsnLeuAspProValAspLysPheSerLysLeuArgProLeuIleSerLysLeuAsnGluArgCysMetLysPheValProAsnGluThrTyrPheSerPheAspGluPheMetValProTyrPheGlyArgHisGlyCysLysGlnPheIleArgGlyLysProIleArgPheGlyTyrLysPheTrpCysGlyAlaThrCysLeuGlyTyrIleCysTrpPheGlnProTyrGlnGlyLysAsnProAsnThrLysHisGluGluTyrGlyValGlyAlaSerLeuValLeuGlnPheSerGluAlaLeuThrGluAlaHisProGlyGlnTyrHisPheValPheAsnAsnPhePheThrSerIleAlaLeuLeuAspLysLeuSerSerMetGlyHisGlnAlaThrGlyThrValArgLysAspHisIleAspArgValProLeuGluSerAspValAlaLeuLysLysLysGluArgGlyThrPheAspTyrArgIleAspGlyLysGlyAsnIleValCysArgTrpAsnAspAsnSerValValThrValAlaSerSerGlyAlaGlyIleHisProLeuCysLeuValSerArgTyrSerGlnLysLeuLysLysLysIleGlnValGlnGlnProAsnMetIleLysValTyrAsnGlnPheMetGlyGlyValAspArgAlaAspGluAsnIleAspLysTyrArgAlaSerIleArgGlyLysLysTrpTyrSerSerProLeuLeuPheCysPheGluLeuValLeuGlnAsnAlaTrpGlnLeuHisLysThrTyrAspGluLysProValAspPheLeuGluPheArgArgArgValValCysHisTyrLeuGluThrHisGlyHisProProGluProGlyGlnLysGlyArgProGlnLysArgAsnIleAspSerArgTyrAspGlyIleAsnHisValIleValLysGlnGlyLysGlnThrArgCysAlaGluCysHisLysAsnThrThrPheArgCysGluLysCysAspValAlaLeuHisValLysCysSerValGluTyrHisThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.3:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Arg77Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826568027",
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "hgvs": [
        "NM_001277058.1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263987.1:p.Arg77Ter",
        "hgvsWellDefined": "NP_001263987.1:p.Arg77_Glu1061delinsHisGlnIleGlnAlaValGluProSerAlaGlnAlaLeuGluLeuGlnGlyLeuGlyValAspValTyrAspGlnAspValLeuGluGlnGlyValLeuGlnGlnValAspAsnAlaIleHisGluAlaSerArgAlaSerGlnLeuValAspValGluLysGluTyrArgSerValLeuAspAspLeuThrSerCysThrThrSerLeuArgGlnIleAsnLysIleIleGluGlnLeuSerProGlnAlaAlaThrSerArgAspIleAsnArgLysLeuAspSerValLysArgGlnLysTyrAsnLysGluGlnGlnLeuLysLysIleThrAlaLysGlnLysHisLeuGlnAlaIleLeuGlyGlyAlaGluValLysIleGluLeuAspHisAlaSerLeuGluGluAspAlaGluProGlyProSerSerLeuGlySerMetLeuMetProValGlnGluThrAlaTrpGluGluLeuIleArgThrGlyGlnMetThrProPheGlyThrGlnIleProGlnLysGlnGluLysLysProArgLysIleMetLeuAsnGluAlaSerGlyPheGluLysTyrLeuAlaAspGlnAlaLysLeuSerPheGluArgLysLysGlnGlyCysAsnLysArgAlaAlaArgLysAlaProAlaProValThrProProAlaProValGlnAsnLysAsnLysProAsnLysLysAlaArgValLeuSerLysLysGluGluArgLeuLysLysHisIleLysLysLeuGlnLysArgAlaLeuGlnPheGlnGlyLysValGlyLeuProLysAlaArgArgProTrpGluSerAspMetArgProGluAlaGluGlyAspSerGluGlyGluGluSerGluTyrPheProThrGluGluGluGluGluGluGluAspAspGluValGluGlyAlaGluAlaAspLeuSerGlyAspGlyThrAspTyrGluLeuLysProLeuProLysGlyGlyLysArgGlnLysLysValProValGlnGluIleAspAspAspPhePheProSerSerGlyGluGluAlaGluAlaAlaSerValGlyGluGlyGlyGlyGlyGlyArgLysValGlyArgTyrArgAspAspGlyAspGluAspTyrTyrLysGlnArgLeuSerProLysMetProArgThrLeuSerLeuHisGluIleThrAspLeuLeuGluThrAspAspSerIleGluAlaSerAlaIleValIleGlnProProGluAsnAlaThrAlaProValSerAspGluGluSerGlyAspGluGluGlyGlyThrIleAsnAsnLeuProGlySerLeuLeuHisThrAlaAlaTyrLeuIleGlnAspGlySerAspAlaGluSerAspSerAspAspProSerTyrAlaProLysAspAspSerProAspGluValProSerThrPheThrValGlnGlnProProProSerArgArgArgLysMetThrLysIleLeuCysLysTrpLysLysAlaAspLeuThrValGlnProValAlaGlyArgValThrAlaProProAsnAspPhePheThrValMetArgThrProThrGluIleLeuGluLeuPheLeuAspAspGluValIleGluLeuIleValLysTyrSerAsnLeuTyrAlaCysSerLysGlyValHisLeuGlyLeuThrSerSerGluPheLysCysPheLeuGlyIleIlePheLeuSerGlyTyrValSerValProArgArgArgMetPheTrpGluGlnArgThrAspValHisAsnValLeuValSerAlaAlaMetArgArgAspArgPheGluThrIlePheSerAsnLeuHisValAlaAspAsnAlaAsnLeuAspProValAspLysPheSerLysLeuArgProLeuIleSerLysLeuAsnGluArgCysMetLysPheValProAsnGluThrTyrPheSerPheAspGluPheMetValProTyrPheGlyArgHisGlyCysLysGlnPheIleArgGlyLysProIleArgPheGlyTyrLysPheTrpCysGlyAlaThrCysLeuGlyTyrIleCysTrpPheGlnProTyrGlnGlyLysAsnProAsnThrLysHisGluGluTyrGlyValGlyAlaSerLeuValLeuGlnPheSerGluAlaLeuThrGluAlaHisProGlyGlnTyrHisPheValPheAsnAsnPhePheThrSerIleAlaLeuLeuAspLysLeuSerSerMetGlyHisGlnAlaThrGlyThrValArgLysAspHisIleAspArgValProLeuGluSerAspValAlaLeuLysLysLysGluArgGlyThrPheAspTyrArgIleAspGlyLysGlyAsnIleValCysArgTrpAsnAspAsnSerValValThrValAlaSerSerGlyAlaGlyIleHisProLeuCysLeuValSerArgTyrSerGlnLysLeuLysLysLysIleGlnValGlnGlnProAsnMetIleLysValTyrAsnGlnPheMetGlyGlyValAspArgAlaAspGluAsnIleAspLysTyrArgAlaSerIleArgGlyLysLysTrpTyrSerSerProLeuLeuPheCysPheGluLeuValLeuGlnAsnAlaTrpGlnLeuHisLysThrTyrAspGluLysProValAspPheLeuGluPheArgArgArgValValCysHisTyrLeuGluThrHisGlyHisProProGluProGlyGlnLysGlyArgProGlnLysArgAsnIleAspSerArgTyrAspGlyIleAsnHisValIleValLysGlnGlyLysGlnThrArgCysAlaGluCysHisLysAsnThrThrPheArgCysGluLysCysAspValAlaLeuHisValLysCysSerValGluTyrHisThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826568447",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "hgvs": [
        "NM_001277059.1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263988.1:p.Arg77Ter",
        "hgvsWellDefined": "NP_001263988.1:p.Arg77_Glu1061delinsHisGlnIleGlnAlaValGluProSerAlaGlnAlaLeuGluLeuGlnGlyLeuGlyValAspValTyrAspGlnAspValLeuGluGlnGlyValLeuGlnGlnValAspAsnAlaIleHisGluAlaSerArgAlaSerGlnLeuValAspValGluLysGluTyrArgSerValLeuAspAspLeuThrSerCysThrThrSerLeuArgGlnIleAsnLysIleIleGluGlnLeuSerProGlnAlaAlaThrSerArgAspIleAsnArgLysLeuAspSerValLysArgGlnLysTyrAsnLysGluGlnGlnLeuLysLysIleThrAlaLysGlnLysHisLeuGlnAlaIleLeuGlyGlyAlaGluValLysIleGluLeuAspHisAlaSerLeuGluGluAspAlaGluProGlyProSerSerLeuGlySerMetLeuMetProValGlnGluThrAlaTrpGluGluLeuIleArgThrGlyGlnMetThrProPheGlyThrGlnIleProGlnLysGlnGluLysLysProArgLysIleMetLeuAsnGluAlaSerGlyPheGluLysTyrLeuAlaAspGlnAlaLysLeuSerPheGluArgLysLysGlnGlyCysAsnLysArgAlaAlaArgLysAlaProAlaProValThrProProAlaProValGlnAsnLysAsnLysProAsnLysLysAlaArgValLeuSerLysLysGluGluArgLeuLysLysHisIleLysLysLeuGlnLysArgAlaLeuGlnPheGlnGlyLysValGlyLeuProLysAlaArgArgProTrpGluSerAspMetArgProGluAlaGluGlyAspSerGluGlyGluGluSerGluTyrPheProThrGluGluGluGluGluGluGluAspAspGluValGluGlyAlaGluAlaAspLeuSerGlyAspGlyThrAspTyrGluLeuLysProLeuProLysGlyGlyLysArgGlnLysLysValProValGlnGluIleAspAspAspPhePheProSerSerGlyGluGluAlaGluAlaAlaSerValGlyGluGlyGlyGlyGlyGlyArgLysValGlyArgTyrArgAspAspGlyAspGluAspTyrTyrLysGlnArgLeuSerProLysMetProArgThrLeuSerLeuHisGluIleThrAspLeuLeuGluThrAspAspSerIleGluAlaSerAlaIleValIleGlnProProGluAsnAlaThrAlaProValSerAspGluGluSerGlyAspGluGluGlyGlyThrIleAsnAsnLeuProGlySerLeuLeuHisThrAlaAlaTyrLeuIleGlnAspGlySerAspAlaGluSerAspSerAspAspProSerTyrAlaProLysAspAspSerProAspGluValProSerThrPheThrValGlnGlnProProProSerArgArgArgLysMetThrLysIleLeuCysLysTrpLysLysAlaAspLeuThrValGlnProValAlaGlyArgValThrAlaProProAsnAspPhePheThrValMetArgThrProThrGluIleLeuGluLeuPheLeuAspAspGluValIleGluLeuIleValLysTyrSerAsnLeuTyrAlaCysSerLysGlyValHisLeuGlyLeuThrSerSerGluPheLysCysPheLeuGlyIleIlePheLeuSerGlyTyrValSerValProArgArgArgMetPheTrpGluGlnArgThrAspValHisAsnValLeuValSerAlaAlaMetArgArgAspArgPheGluThrIlePheSerAsnLeuHisValAlaAspAsnAlaAsnLeuAspProValAspLysPheSerLysLeuArgProLeuIleSerLysLeuAsnGluArgCysMetLysPheValProAsnGluThrTyrPheSerPheAspGluPheMetValProTyrPheGlyArgHisGlyCysLysGlnPheIleArgGlyLysProIleArgPheGlyTyrLysPheTrpCysGlyAlaThrCysLeuGlyTyrIleCysTrpPheGlnProTyrGlnGlyLysAsnProAsnThrLysHisGluGluTyrGlyValGlyAlaSerLeuValLeuGlnPheSerGluAlaLeuThrGluAlaHisProGlyGlnTyrHisPheValPheAsnAsnPhePheThrSerIleAlaLeuLeuAspLysLeuSerSerMetGlyHisGlnAlaThrGlyThrValArgLysAspHisIleAspArgValProLeuGluSerAspValAlaLeuLysLysLysGluArgGlyThrPheAspTyrArgIleAspGlyLysGlyAsnIleValCysArgTrpAsnAspAsnSerValValThrValAlaSerSerGlyAlaGlyIleHisProLeuCysLeuValSerArgTyrSerGlnLysLeuLysLysLysIleGlnValGlnGlnProAsnMetIleLysValTyrAsnGlnPheMetGlyGlyValAspArgAlaAspGluAsnIleAspLysTyrArgAlaSerIleArgGlyLysLysTrpTyrSerSerProLeuLeuPheCysPheGluLeuValLeuGlnAsnAlaTrpGlnLeuHisLysThrTyrAspGluLysProValAspPheLeuGluPheArgArgArgValValCysHisTyrLeuGluThrHisGlyHisProProGluProGlyGlnLysGlyArgProGlnLysArgAsnIleAspSerArgTyrAspGlyIleAsnHisValIleValLysGlnGlyLysGlnThrArgCysAlaGluCysHisLysAsnThrThrPheArgCysGluLysCysAspValAlaLeuHisValLysCysSerValGluTyrHisThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Arg77Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.4:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Arg77Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Arg77Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Arg77Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826568027",
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001277058.2:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263987.1:p.Arg77Ter",
        "hgvsWellDefined": "NP_001263987.1:p.Arg77_Glu1061delinsHisGlnIleGlnAlaValGluProSerAlaGlnAlaLeuGluLeuGlnGlyLeuGlyValAspValTyrAspGlnAspValLeuGluGlnGlyValLeuGlnGlnValAspAsnAlaIleHisGluAlaSerArgAlaSerGlnLeuValAspValGluLysGluTyrArgSerValLeuAspAspLeuThrSerCysThrThrSerLeuArgGlnIleAsnLysIleIleGluGlnLeuSerProGlnAlaAlaThrSerArgAspIleAsnArgLysLeuAspSerValLysArgGlnLysTyrAsnLysGluGlnGlnLeuLysLysIleThrAlaLysGlnLysHisLeuGlnAlaIleLeuGlyGlyAlaGluValLysIleGluLeuAspHisAlaSerLeuGluGluAspAlaGluProGlyProSerSerLeuGlySerMetLeuMetProValGlnGluThrAlaTrpGluGluLeuIleArgThrGlyGlnMetThrProPheGlyThrGlnIleProGlnLysGlnGluLysLysProArgLysIleMetLeuAsnGluAlaSerGlyPheGluLysTyrLeuAlaAspGlnAlaLysLeuSerPheGluArgLysLysGlnGlyCysAsnLysArgAlaAlaArgLysAlaProAlaProValThrProProAlaProValGlnAsnLysAsnLysProAsnLysLysAlaArgValLeuSerLysLysGluGluArgLeuLysLysHisIleLysLysLeuGlnLysArgAlaLeuGlnPheGlnGlyLysValGlyLeuProLysAlaArgArgProTrpGluSerAspMetArgProGluAlaGluGlyAspSerGluGlyGluGluSerGluTyrPheProThrGluGluGluGluGluGluGluAspAspGluValGluGlyAlaGluAlaAspLeuSerGlyAspGlyThrAspTyrGluLeuLysProLeuProLysGlyGlyLysArgGlnLysLysValProValGlnGluIleAspAspAspPhePheProSerSerGlyGluGluAlaGluAlaAlaSerValGlyGluGlyGlyGlyGlyGlyArgLysValGlyArgTyrArgAspAspGlyAspGluAspTyrTyrLysGlnArgLeuSerProLysMetProArgThrLeuSerLeuHisGluIleThrAspLeuLeuGluThrAspAspSerIleGluAlaSerAlaIleValIleGlnProProGluAsnAlaThrAlaProValSerAspGluGluSerGlyAspGluGluGlyGlyThrIleAsnAsnLeuProGlySerLeuLeuHisThrAlaAlaTyrLeuIleGlnAspGlySerAspAlaGluSerAspSerAspAspProSerTyrAlaProLysAspAspSerProAspGluValProSerThrPheThrValGlnGlnProProProSerArgArgArgLysMetThrLysIleLeuCysLysTrpLysLysAlaAspLeuThrValGlnProValAlaGlyArgValThrAlaProProAsnAspPhePheThrValMetArgThrProThrGluIleLeuGluLeuPheLeuAspAspGluValIleGluLeuIleValLysTyrSerAsnLeuTyrAlaCysSerLysGlyValHisLeuGlyLeuThrSerSerGluPheLysCysPheLeuGlyIleIlePheLeuSerGlyTyrValSerValProArgArgArgMetPheTrpGluGlnArgThrAspValHisAsnValLeuValSerAlaAlaMetArgArgAspArgPheGluThrIlePheSerAsnLeuHisValAlaAspAsnAlaAsnLeuAspProValAspLysPheSerLysLeuArgProLeuIleSerLysLeuAsnGluArgCysMetLysPheValProAsnGluThrTyrPheSerPheAspGluPheMetValProTyrPheGlyArgHisGlyCysLysGlnPheIleArgGlyLysProIleArgPheGlyTyrLysPheTrpCysGlyAlaThrCysLeuGlyTyrIleCysTrpPheGlnProTyrGlnGlyLysAsnProAsnThrLysHisGluGluTyrGlyValGlyAlaSerLeuValLeuGlnPheSerGluAlaLeuThrGluAlaHisProGlyGlnTyrHisPheValPheAsnAsnPhePheThrSerIleAlaLeuLeuAspLysLeuSerSerMetGlyHisGlnAlaThrGlyThrValArgLysAspHisIleAspArgValProLeuGluSerAspValAlaLeuLysLysLysGluArgGlyThrPheAspTyrArgIleAspGlyLysGlyAsnIleValCysArgTrpAsnAspAsnSerValValThrValAlaSerSerGlyAlaGlyIleHisProLeuCysLeuValSerArgTyrSerGlnLysLeuLysLysLysIleGlnValGlnGlnProAsnMetIleLysValTyrAsnGlnPheMetGlyGlyValAspArgAlaAspGluAsnIleAspLysTyrArgAlaSerIleArgGlyLysLysTrpTyrSerSerProLeuLeuPheCysPheGluLeuValLeuGlnAsnAlaTrpGlnLeuHisLysThrTyrAspGluLysProValAspPheLeuGluPheArgArgArgValValCysHisTyrLeuGluThrHisGlyHisProProGluProGlyGlnLysGlyArgProGlnLysArgAsnIleAspSerArgTyrAspGlyIleAsnHisValIleValLysGlnGlyLysGlnThrArgCysAlaGluCysHisLysAsnThrThrPheArgCysGluLysCysAspValAlaLeuHisValLysCysSerValGluTyrHisThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447839.7:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001277058.2:c.229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387966.2:p.Arg77Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001263987.1:p.Arg77Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826568447",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001277059.2:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263988.1:p.Arg77Ter",
        "hgvsWellDefined": "NP_001263988.1:p.Arg77_Glu1061delinsHisGlnIleGlnAlaValGluProSerAlaGlnAlaLeuGluLeuGlnGlyLeuGlyValAspValTyrAspGlnAspValLeuGluGlnGlyValLeuGlnGlnValAspAsnAlaIleHisGluAlaSerArgAlaSerGlnLeuValAspValGluLysGluTyrArgSerValLeuAspAspLeuThrSerCysThrThrSerLeuArgGlnIleAsnLysIleIleGluGlnLeuSerProGlnAlaAlaThrSerArgAspIleAsnArgLysLeuAspSerValLysArgGlnLysTyrAsnLysGluGlnGlnLeuLysLysIleThrAlaLysGlnLysHisLeuGlnAlaIleLeuGlyGlyAlaGluValLysIleGluLeuAspHisAlaSerLeuGluGluAspAlaGluProGlyProSerSerLeuGlySerMetLeuMetProValGlnGluThrAlaTrpGluGluLeuIleArgThrGlyGlnMetThrProPheGlyThrGlnIleProGlnLysGlnGluLysLysProArgLysIleMetLeuAsnGluAlaSerGlyPheGluLysTyrLeuAlaAspGlnAlaLysLeuSerPheGluArgLysLysGlnGlyCysAsnLysArgAlaAlaArgLysAlaProAlaProValThrProProAlaProValGlnAsnLysAsnLysProAsnLysLysAlaArgValLeuSerLysLysGluGluArgLeuLysLysHisIleLysLysLeuGlnLysArgAlaLeuGlnPheGlnGlyLysValGlyLeuProLysAlaArgArgProTrpGluSerAspMetArgProGluAlaGluGlyAspSerGluGlyGluGluSerGluTyrPheProThrGluGluGluGluGluGluGluAspAspGluValGluGlyAlaGluAlaAspLeuSerGlyAspGlyThrAspTyrGluLeuLysProLeuProLysGlyGlyLysArgGlnLysLysValProValGlnGluIleAspAspAspPhePheProSerSerGlyGluGluAlaGluAlaAlaSerValGlyGluGlyGlyGlyGlyGlyArgLysValGlyArgTyrArgAspAspGlyAspGluAspTyrTyrLysGlnArgLeuSerProLysMetProArgThrLeuSerLeuHisGluIleThrAspLeuLeuGluThrAspAspSerIleGluAlaSerAlaIleValIleGlnProProGluAsnAlaThrAlaProValSerAspGluGluSerGlyAspGluGluGlyGlyThrIleAsnAsnLeuProGlySerLeuLeuHisThrAlaAlaTyrLeuIleGlnAspGlySerAspAlaGluSerAspSerAspAspProSerTyrAlaProLysAspAspSerProAspGluValProSerThrPheThrValGlnGlnProProProSerArgArgArgLysMetThrLysIleLeuCysLysTrpLysLysAlaAspLeuThrValGlnProValAlaGlyArgValThrAlaProProAsnAspPhePheThrValMetArgThrProThrGluIleLeuGluLeuPheLeuAspAspGluValIleGluLeuIleValLysTyrSerAsnLeuTyrAlaCysSerLysGlyValHisLeuGlyLeuThrSerSerGluPheLysCysPheLeuGlyIleIlePheLeuSerGlyTyrValSerValProArgArgArgMetPheTrpGluGlnArgThrAspValHisAsnValLeuValSerAlaAlaMetArgArgAspArgPheGluThrIlePheSerAsnLeuHisValAlaAspAsnAlaAsnLeuAspProValAspLysPheSerLysLeuArgProLeuIleSerLysLeuAsnGluArgCysMetLysPheValProAsnGluThrTyrPheSerPheAspGluPheMetValProTyrPheGlyArgHisGlyCysLysGlnPheIleArgGlyLysProIleArgPheGlyTyrLysPheTrpCysGlyAlaThrCysLeuGlyTyrIleCysTrpPheGlnProTyrGlnGlyLysAsnProAsnThrLysHisGluGluTyrGlyValGlyAlaSerLeuValLeuGlnPheSerGluAlaLeuThrGluAlaHisProGlyGlnTyrHisPheValPheAsnAsnPhePheThrSerIleAlaLeuLeuAspLysLeuSerSerMetGlyHisGlnAlaThrGlyThrValArgLysAspHisIleAspArgValProLeuGluSerAspValAlaLeuLysLysLysGluArgGlyThrPheAspTyrArgIleAspGlyLysGlyAsnIleValCysArgTrpAsnAspAsnSerValValThrValAlaSerSerGlyAlaGlyIleHisProLeuCysLeuValSerArgTyrSerGlnLysLeuLysLysLysIleGlnValGlnGlnProAsnMetIleLysValTyrAsnGlnPheMetGlyGlyValAspArgAlaAspGluAsnIleAspLysTyrArgAlaSerIleArgGlyLysLysTrpTyrSerSerProLeuLeuPheCysPheGluLeuValLeuGlnAsnAlaTrpGlnLeuHisLysThrTyrAspGluLysProValAspPheLeuGluPheArgArgArgValValCysHisTyrLeuGluThrHisGlyHisProProGluProGlyGlnLysGlyArgProGlnLysArgAsnIleAspSerArgTyrAspGlyIleAsnHisValIleValLysGlnGlyLysGlnThrArgCysAlaGluCysHisLysAsnThrThrPheArgCysGluLysCysAspValAlaLeuHisValLysCysSerValGluTyrHisThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.2:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Arg77Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718939"
    }
  ],
  "type": "nucleotide"
}