{
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  "@id": "http://reg.genome.network/allele/CA370518792",
  "communityStandardTitle": [
    "NM_005144.5(HR):c.2545C>T (p.Gln849Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2164062[alleleid]",
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        "preferredName": "NM_005144.5(HR):c.2545C>T (p.Gln849Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2111487",
        "RCV": [
          "RCV003022634"
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        "variationId": 2111487
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.21978294G>A?assembly=hg19",
        "id": "chr8:g.21978294G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.22120781G>A?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2538875189",
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-22120781-G-A?dataset=gnomad_r4",
        "id": "8-22120781-G-A",
        "variant": "8:22120781 G / A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
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      "referenceGenome": "NCBI36",
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS780404"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS256730"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273354"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS345321"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS030265"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS035722"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS067650"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537472"
    },
    {
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        {
          "allele": "T",
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      "proteinEffect": {
        "hgvs": "XP_006716430.1:p.Gln850Ter",
        "hgvsWellDefined": "XP_006716430.1:p.Gln850_Lys1135delinsGluProGlnProCysProArgArgGlyPheHisLeuPheGlnGluHisTrpArgGlnGlyGlnProValLeuValSerGlyIleGlnArgThrLeuGlnGlyAsnLeuTrpGlyThrGluAlaLeuGlyAlaLeuGlyGlyGlnValGlnAlaLeuSerProLeuGlyProProGlnProSerSerLeuGlySerThrThrPheTrpGluGlyPheSerTrpProGluLeuArgProLysSerAspGluGlySerValLeuLeuLeuHisArgAlaLeuGlyAspGluAspThrSerArgValGluAsnLeuAlaAlaSerLeuProLeuProGluTyrCysAlaLeuHisGlyLysLeuAsnLeuAlaSerTyrLeuProProGlyLeuAlaLeuArgProLeuGluProGlnLeuTrpAlaAlaTyrGlyValSerProHisArgGlyHisLeuGlyThrLysAsnLeuCysValGluValAlaAspLeuValSerIleLeuValHisAlaAspThrProLeuProAlaTrpHisArgAlaGlnLysAspPheLeuSerGlyLeuAspGlyGluGlyLeuTrpSerProGlySerGlnValSerThrValTrpHisValPheArgAlaGlnAspAlaGlnArgIleArgArgPheLeuGlnMetValGlnGlyLeuValSerThrValSerValThrGlnHisPheLeuSerProGluThrSerAlaLeuSerAlaGlnLeuCysHisGlnGlyProSerLeuProProAspCysHisLeuLeuTyrAlaGlnMetAspTrpAlaValPheGlnAlaValLysValAlaValGlyThrLeuGlnGluAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829585156",
      "coordinates": [
        {
          "allele": "T",
          "end": 3168,
          "referenceAllele": "C",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005172",
      "geneNCBI_id": 55806,
      "geneSymbol": "HR",
      "hgvs": [
        "NM_005144.5:c.2545C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005135.2:p.Gln849Ter",
        "hgvsWellDefined": "NP_005135.2:p.Gln849_Lys1189delinsGluProGlnProCysProArgArgGlyPheHisLeuPheGlnGluHisTrpArgGlnGlyGlnProValLeuValSerGlyIleGlnArgThrLeuGlnGlyAsnLeuTrpGlyThrGluAlaLeuGlyAlaLeuGlyGlyGlnValGlnAlaLeuSerProLeuGlyProProGlnProSerSerLeuGlySerThrThrPheTrpGluGlyPheSerTrpProGluLeuArgProLysSerAspGluGlySerValLeuLeuLeuHisArgAlaLeuGlyAspGluAspThrSerArgValGluAsnLeuAlaAlaSerLeuProLeuProGluTyrCysAlaLeuHisGlyLysLeuAsnLeuAlaSerTyrLeuProProGlyLeuAlaLeuArgProLeuGluProGlnLeuTrpAlaAlaTyrGlyValSerProHisArgGlyHisLeuGlyThrLysAsnLeuCysValGluValAlaAspLeuValSerIleLeuValHisAlaAspThrProLeuProAlaTrpHisArgAlaGlnLysAspPheLeuSerGlyLeuAspGlyGluGlyLeuTrpSerProGlySerGlnValSerThrValTrpHisValPheArgAlaGlnAspAlaGlnArgIleArgArgPheLeuGlnMetValCysProAlaGlyAlaGlyAlaLeuGluProGlyAlaProGlySerCysTyrLeuAspAlaGlyLeuArgArgArgLeuArgGluGluTrpGlyValSerCysTrpThrLeuLeuGlnAlaProGlyGluAlaValLeuValProAlaGlyAlaProHisGlnValGlnGlyLeuValSerThrValSerValThrGlnHisPheLeuSerProGluThrSerAlaLeuSerAlaGlnLeuCysHisGlnGlyProSerLeuProProAspCysHisLeuLeuTyrAlaGlnMetAspTrpAlaValPheGlnAlaValLysValAlaValGlyThrLeuGlnGluAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727590",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381418.9:c.2545C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005144.5:c.2545C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370826.4:p.Gln849Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005135.2:p.Gln849Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}