{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253641",
  "communityStandardTitle": [
    "NM_006502.3(POLH):c.376C>T (p.Gln126Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20928[alleleid]",
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        "preferredName": "NM_006502.3(POLH):c.376C>T (p.Gln126Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5889",
        "RCV": [
          "RCV000006247",
          "RCV003555934"
        ],
        "variationId": 5889
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43555112C>T?assembly=hg19",
        "id": "chr6:g.43555112C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43587375C>T?assembly=hg38",
        "id": "chr6:g.43587375C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908563",
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      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43555112-C-T?dataset=gnomad_r2_1",
        "id": "6-43555112-C-T",
        "variant": "6:43555112 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43587375-C-T?dataset=gnomad_r4",
        "id": "6-43587375-C-T",
        "variant": "6:43587375 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
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      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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        }
      ],
      "hgvs": [
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        "CM000668.1:g.43555112C>T"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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          "end": 43663090,
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          "start": 43663089
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      ],
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "end": 16235,
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          "start": 16234
        }
      ],
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        "LRG_470:g.16235C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001522"
    }
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  "transcriptAlleles": [
    {
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      "proteinEffect": {
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        "maneStatus": "MANE Select",
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          "start": 523
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS268992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
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          "start": 305
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000405320.1:p.Gln64_Gly72del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS297384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS024404"
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    {
      "@id": "http://reg.genome.network/allele/PA2826815253",
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        {
          "allele": "T",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253643",
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        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
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      "hgvs": [
        "NM_006502.2:c.376C>T",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_006493.1:p.Gln126_His713delinsGluArgLeuGlnLysLeuGlnGlyGlnProIleSerAlaAspLeuLeuProSerThrTyrIleGluGlyLeuProGlnGlyProThrThrAlaGluGluThrValGlnLysGluGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
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        "XM_005249186.2:c.190C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005249243.1:p.Gln64_His651delinsGluArgLeuGlnLysLeuGlnGlyGlnProIleSerAlaAspLeuLeuProSerThrTyrIleGluGlyLeuProGlnGlyProThrThrAlaGluGluThrValGlnLysGluGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 4234,
          "referenceAllele": "C",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_011514698.1:c.118+4234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513000.1:n.118+4234C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
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        }
      ],
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      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_005249243.1:p.Gln64Ter",
        "hgvsWellDefined": "XP_005249243.1:p.Gln64_His651delinsGluArgLeuGlnLysLeuGlnGlyGlnProIleSerAlaAspLeuLeuProSerThrTyrIleGluGlyLeuProGlnGlyProThrThrAlaGluGluThrValGlnLysGluGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "endIntronDirection": "+",
          "endIntronOffset": 4234,
          "referenceAllele": "C",
          "start": 568,
          "startIntronDirection": "+",
          "startIntronOffset": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_011514698.3:c.118+4234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513000.1:n.118+4234C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3423,
          "referenceAllele": "C",
          "start": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446466.1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302234.1:p.Gln42Ter",
        "hgvsWellDefined": "XP_024302234.1:p.Gln42_His629delinsGluArgLeuGlnLysLeuGlnGlyGlnProIleSerAlaAspLeuLeuProSerThrTyrIleGluGlyLeuProGlnGlyProThrThrAlaGluGluThrValGlnLysGluGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446467.1:c.-244C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302235.1:n.-244C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 4234,
          "referenceAllele": "C",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291969.2:c.118+4234C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278898.1:n.118+4234C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815253",
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291970.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278899.1:p.Gln126Ter",
        "hgvsWellDefined": "NP_001278899.1:p.Gln126_Glu414delinsGluArgLeuGlnLysLeuGlnGlyGlnProIleSerAlaAspLeuLeuProSerThrTyrIleGluGlyLeuProGlnGlyProThrThrAlaGluGluThrValGlnLysGluGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253643",
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_006502.3:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006493.1:p.Gln126Ter",
        "hgvsWellDefined": "NP_006493.1:p.Gln126_His713delinsGluArgLeuGlnLysLeuGlnGlyGlnProIleSerAlaAspLeuLeuProSerThrTyrIleGluGlyLeuProGlnGlyProThrThrAlaGluGluThrValGlnLysGluGlyMetArgLysGlnGlyLeuPheGlnTrpLeuAspSerLeuGlnIleAspAsnLeuThrSerProAspLeuGlnLeuThrValGlyAlaValIleValGluGluMetArgAlaAlaIleGluArgGluThrGlyPheGlnCysSerAlaGlyIleSerHisAsnLysValLeuAlaLysLeuAlaCysGlyLeuAsnLysProAsnArgGlnThrLeuValSerHisGlySerValProGlnLeuPheSerGlnMetProIleArgLysIleArgSerLeuGlyGlyLysLeuGlyAlaSerValIleGluIleLeuGlyIleGluTyrMetGlyGluLeuThrGlnPheThrGluSerGlnLeuGlnSerHisPheGlyGluLysAsnGlySerTrpLeuTyrAlaMetCysArgGlyIleGluHisAspProValLysProArgGlnLeuProLysThrIleGlyCysSerLysAsnPheProGlyLysThrAlaLeuAlaThrArgGluGlnValGlnTrpTrpLeuLeuGlnLeuAlaGlnGluLeuGluGluArgLeuThrLysAspArgAsnAspAsnAspArgValAlaThrGlnLeuValValSerIleArgValGlnGlyAspLysArgLeuSerSerLeuArgArgCysCysAlaLeuThrArgTyrAspAlaHisLysMetSerHisAspAlaPheThrValIleLysAsnCysAsnThrSerGlyIleGlnThrGluTrpSerProProLeuThrMetLeuPheLeuCysAlaThrLysPheSerAlaSerAlaProSerSerSerThrAspIleThrSerPheLeuSerSerAspProSerSerLeuProLysValProValThrSerSerGluAlaLysThrGlnGlySerGlyProAlaValThrAlaThrLysLysAlaThrThrSerLeuGluSerPhePheGlnLysAlaAlaGluArgGlnLysValLysGluAlaSerLeuSerSerLeuThrAlaProThrGlnAlaProMetSerAsnSerProSerLysProSerLeuProPheGlnThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372236.9:c.376C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006502.3:c.376C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361310.4:p.Gln126Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006493.1:p.Gln126Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 58104,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 58103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.945+58104C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.945+58104C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}