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        "hgvsWellDefined": "ENSP00000289081.3:p.Gln13_Val558delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.5:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Gln13Ter",
        "hgvsWellDefined": "ENSP00000364454.1:p.Gln13_Val558delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178,
          "referenceAllele": "C",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000433829.1:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406908.1:p.Gln13Ter",
        "hgvsWellDefined": "ENSP00000406908.1:p.Gln13_Leu150del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000474949.1:n.299C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.6:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Gln13Ter",
        "hgvsWellDefined": "ENSP00000479931.1:p.Gln13_Ile492delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287212",
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.2:c.37C>T",
        "LRG_497t1:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Gln13Ter",
        "hgvsWellDefined": "NP_000127.2:p.Gln13_Val558delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826330040",
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.1:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Gln13Ter",
        "hgvsWellDefined": "NP_001230672.1:p.Gln13_Val558delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405537",
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.1:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Gln13Ter",
        "hgvsWellDefined": "NP_001230673.1:p.Gln13_Ile492delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.1:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Gln13Ter",
        "hgvsWellDefined": "XP_006717064.1:p.Gln13_Val503delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.2:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Gln13Ter",
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    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS071947"
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        {
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          "referenceAllele": "C",
          "start": 273
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    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS085540"
    },
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        {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS085541"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS539304"
    },
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        {
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS539305"
    },
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS539306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2108,
          "referenceAllele": "C",
          "start": 2107
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      "referenceSequence": "http://reg.genome.network/refseq/RS544881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "referenceAllele": "C",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.2:c.-565C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:n.-565C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014452.2:c.-565C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869941.1:n.-565C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014453.1:c.-565C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869942.1:n.-565C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "referenceAllele": "C",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014454.1:c.-565C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869943.1:n.-565C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:p.Gln13Ter",
        "hgvsWellDefined": "XP_024303219.1:p.Gln13_Val558delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287212",
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Gln13Ter",
        "hgvsWellDefined": "NP_000127.2:p.Gln13_Val558delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.37C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.37C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Gln13Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Gln13Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826330040",
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Gln13Ter",
        "hgvsWellDefined": "NP_001230672.1:p.Gln13_Val558delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405537",
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.2:c.37C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Gln13Ter",
        "hgvsWellDefined": "NP_001230673.1:p.Gln13_Ile492delinsPheTrpMetGlnLysLeuSerValTrpAspGlnAlaSerThrLeuGluThrGlnGlnAspThrCysLeuHisValAlaGlnPheGlnGluPheLeuArgLysMetTyrGluAlaLeuLysGluMetAspSerAsnThrValIleGluArgPheProThrIleGlyGlnLeuLeuAlaLysAlaCysTrpAsnProPheIleLeuAlaTyrAspGluSerGlnLysIleLeuIleTrpCysLeuCysCysLeuIleAsnLysGluProGlnAsnSerGlyGlnSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714505"
    }
  ],
  "type": "nucleotide"
}