{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253638",
  "communityStandardTitle": [
    "NM_006502.3(POLH):c.916G>T (p.Glu306Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20926[alleleid]",
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        "preferredName": "NM_006502.3(POLH):c.916G>T (p.Glu306Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5887",
        "RCV": [
          "RCV000006245"
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        "variationId": 5887
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43572383G>T?assembly=hg19",
        "id": "chr6:g.43572383G>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43604646G>T?assembly=hg38",
        "id": "chr6:g.43604646G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908562",
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43604646-G-T?dataset=gnomad_r4",
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        "variant": "6:43604646 G / T"
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    ]
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
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          "end": 33506,
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      "referenceSequence": "http://reg.genome.network/refseq/RS001522"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS750964",
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        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268985"
    },
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS268992"
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      "referenceSequence": "http://reg.genome.network/refseq/RS024404"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS024405"
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      "referenceSequence": "http://reg.genome.network/refseq/RS031511"
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      "referenceSequence": "http://reg.genome.network/refseq/RS058747"
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    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533232"
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_011514698.3:c.544G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513000.1:p.Glu182Ter",
        "hgvsWellDefined": "XP_011513000.1:p.Glu182_His589delinsHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3963,
          "referenceAllele": "G",
          "start": 3962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446466.1:c.664G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302234.1:p.Glu222Ter",
        "hgvsWellDefined": "XP_024302234.1:p.Glu222_His629delinsHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "G",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446467.1:c.460G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302235.1:p.Glu154Ter",
        "hgvsWellDefined": "XP_024302235.1:p.Glu154_His561delinsHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815079",
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291969.2:c.544G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278898.1:p.Glu182Ter",
        "hgvsWellDefined": "NP_001278898.1:p.Glu182_His589delinsHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815317",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291970.2:c.916G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278899.1:p.Glu306Ter",
        "hgvsWellDefined": "NP_001278899.1:p.Glu306_Glu414delinsHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253640",
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_006502.3:c.916G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006493.1:p.Glu306Ter",
        "hgvsWellDefined": "NP_006493.1:p.Glu306_His713delinsHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372236.9:c.916G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006502.3:c.916G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361310.4:p.Glu306Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006493.1:p.Glu306Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 75375,
          "referenceAllele": "G",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 75374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.945+75375G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.945+75375G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}