{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343972863",
  "communityStandardTitle": [
    "NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1732629",
        "active": true,
        "id": "COSM1732629"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=952168[alleleid]",
        "alleleId": 952168,
        "preferredName": "NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/967087",
        "RCV": [
          "RCV001241910"
        ],
        "variationId": 967087
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193091394G>T?assembly=hg19",
        "id": "chr1:g.193091394G>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193122264G>T?assembly=hg38",
        "id": "chr1:g.193122264G>T"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1675465013",
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      "referenceGenome": "GRCh38",
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    {
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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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      "referenceSequence": "http://reg.genome.network/refseq/RS767038"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS767470"
    },
    {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS769774"
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS770821"
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      "referenceSequence": "http://reg.genome.network/refseq/RS770987"
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    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS266385"
    },
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      "@id": "http://reg.genome.network/allele/PA1139751774",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS037799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 230
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_006711600.1:p.Gly22Ter",
        "hgvsWellDefined": "XP_006711600.1:p.Gly22_Leu347delinsAspGluValIlePheGlyGluPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "XM_006711537.4:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711600.1:p.Gly22Ter",
        "hgvsWellDefined": "XP_006711600.1:p.Gly22_Leu347delinsAspGluValIlePheGlyGluPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "hgvs": [
        "XR_001738350.1:n.1393C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139751774",
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.5:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:p.Gly22Ter",
        "hgvsWellDefined": "NP_078805.3:p.Gly22_Phe531delinsAspGluValIlePheGlyGluPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.64G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.64G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:p.Gly22Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:p.Gly22Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}