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  "@id": "http://reg.genome.network/allele/CA343972812",
  "communityStandardTitle": [
    "NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)"
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        "preferredName": "NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)"
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2758093",
        "RCV": [
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        "variationId": 2758093
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      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193091373A>T?assembly=hg19",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2527280954",
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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/RS037799"
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        {
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      ],
      "proteinEffect": {
        "hgvs": "XP_006711600.1:p.Lys15Ter",
        "hgvsWellDefined": "XP_006711600.1:p.Lys16_Leu347delinsGluIleValValLysGlyAspGluValIlePheGlyGluPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "A",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "XM_006711537.4:c.43A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711600.1:p.Lys15Ter",
        "hgvsWellDefined": "XP_006711600.1:p.Lys16_Leu347delinsGluIleValValLysGlyAspGluValIlePheGlyGluPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "T",
          "start": 1413
        }
      ],
      "hgvs": [
        "XR_001738350.1:n.1414T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741987531",
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "A",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.5:c.43A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:p.Lys15Ter",
        "hgvsWellDefined": "NP_078805.3:p.Lys16_Phe531delinsGluIleValValLysGlyAspGluValIlePheGlyGluPheSerTrpProLysAsnValLysThrAsnTyrValValTrpGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.43A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.43A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:p.Lys15Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:p.Lys15Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}