{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343972911",
  "communityStandardTitle": [
    "NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6188779",
        "active": true,
        "id": "COSM6188779"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421191[alleleid]",
        "alleleId": 421191,
        "preferredName": "NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429954",
        "RCV": [
          "RCV000493922",
          "RCV001060944"
        ],
        "variationId": 429954
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193091415G>T?assembly=hg19",
        "id": "chr1:g.193091415G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193122285G>T?assembly=hg38",
        "id": "chr1:g.193122285G>T"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131691698",
        "rs": 1131691698
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  },
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      "referenceGenome": "GRCh38",
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    {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "1",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS002517"
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  ],
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        {
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS767038"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767470"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS769774"
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      "referenceSequence": "http://reg.genome.network/refseq/RS770629"
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      "referenceSequence": "http://reg.genome.network/refseq/RS770821"
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      "referenceSequence": "http://reg.genome.network/refseq/RS770987"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS266385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645392309",
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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        "XM_006711537.2:c.85G>T"
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      "proteinEffect": {
        "hgvs": "XP_006711600.1:p.Glu29Ter",
        "hgvsWellDefined": "XP_006711600.1:p.Glu29_Leu347delinsPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "referenceAllele": "G",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "XM_006711537.4:c.85G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711600.1:p.Glu29Ter",
        "hgvsWellDefined": "XP_006711600.1:p.Glu29_Leu347delinsPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "hgvs": [
        "XR_001738350.1:n.1372C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645392309",
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.5:c.85G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:p.Glu29Ter",
        "hgvsWellDefined": "NP_078805.3:p.Glu29_Phe531delinsPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.85G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.85G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:p.Glu29Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:p.Glu29Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}