{
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  "@id": "http://reg.genome.network/allele/CA205006",
  "communityStandardTitle": [
    "NM_006502.3(POLH):c.907C>T (p.Arg303Ter)"
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        "preferredName": "NM_006502.3(POLH):c.907C>T (p.Arg303Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224063",
        "RCV": [
          "RCV000209179",
          "RCV003556268"
        ],
        "variationId": 224063
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/6-43572374-C-T",
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        "variant": "6:43572374 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
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        "@id": "http://myvariant.info/v1/variant/chr6:g.43572374C>T?assembly=hg19",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/759607901",
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      {
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      "referenceGenome": "GRCh38",
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      "referenceSequence": "http://reg.genome.network/refseq/RS024404"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081923"
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      "proteinEffect": {
        "hgvs": "XP_005249243.1:p.Arg241Ter",
        "hgvsWellDefined": "XP_005249243.1:p.Arg241_His651delinsGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_011514698.3:c.535C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513000.1:p.Arg179Ter",
        "hgvsWellDefined": "XP_011513000.1:p.Arg179_His589delinsGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3954,
          "referenceAllele": "C",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446466.1:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302234.1:p.Arg219Ter",
        "hgvsWellDefined": "XP_024302234.1:p.Arg219_His629delinsGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446467.1:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302235.1:p.Arg151Ter",
        "hgvsWellDefined": "XP_024302235.1:p.Arg151_His561delinsGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815077",
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291969.2:c.535C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278898.1:p.Arg179Ter",
        "hgvsWellDefined": "NP_001278898.1:p.Arg179_His589delinsGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815316",
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291970.2:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278899.1:p.Arg303Ter",
        "hgvsWellDefined": "NP_001278899.1:p.Arg303_Glu414delinsGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211230",
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_006502.3:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006493.1:p.Arg303Ter",
        "hgvsWellDefined": "NP_006493.1:p.Arg303_His713delinsGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372236.9:c.907C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006502.3:c.907C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361310.4:p.Arg303Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006493.1:p.Arg303Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 75366,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 75365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.945+75366C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.945+75366C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}