{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351007525",
  "communityStandardTitle": [
    "NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)"
  ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=609473[alleleid]",
        "alleleId": 609473,
        "preferredName": "NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/618567",
        "RCV": [
          "RCV000757091",
          "RCV002493380"
        ],
        "variationId": 618567
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233405345C>T?assembly=hg19",
        "id": "chr2:g.233405345C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232540635C>T?assembly=hg38",
        "id": "chr2:g.232540635C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1559302834",
        "rs": 1559302834
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232540635-C-T?dataset=gnomad_r3",
        "id": "2-232540635-C-T",
        "variant": "2:232540635 C / T"
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232540635-C-T?dataset=gnomad_r4",
        "id": "2-232540635-C-T",
        "variant": "2:232540635 C / T"
      }
    ]
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    {
      "chromosome": "2",
      "coordinates": [
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
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          "end": 233405345,
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          "start": 233405344
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      ],
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        "CM000664.1:g.233405345C>T"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
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          "end": 233113589,
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          "start": 233113588
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
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          "end": 5909,
          "referenceAllele": "C",
          "start": 5908
        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS002632"
    },
    {
      "coordinates": [
        {
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          "end": 5944,
          "referenceAllele": "C",
          "start": 5943
        }
      ],
      "hgvs": [
        "NG_012954.2:g.5944C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS616197"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771702",
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          "RefSeq": {
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          }
        }
      }
    },
    {
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        {
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          "end": 274,
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          "start": 273
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      ],
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      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389492.3:c.274C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274222"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 294
        }
      ],
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      "hgvs": [
        "ENST00000389494.7:c.274C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000374145.3:p.Arg92_Asp517delinsAspTyrGluGlyLeuTrpValLeuArgValProSerThrMetValTrpArgProAspIleValLeuGluAsnAsnValAspGlyValPheGluValAlaLeuTyrCysAsnValLeuValSerProAspGlyCysIleTyrTrpLeuProProAlaIlePheArgSerAlaCysSerIleSerValThrTyrPheProPheAspTrpGlnAsnCysSerLeuIlePheGlnSerGlnThrTyrSerThrAsnGluIleAspLeuGlnLeuSerGlnGluAspGlyGlnThrIleGluTrpIlePheIleAspProGluAlaPheThrGluAsnGlyGluTrpAlaIleGlnHisArgProAlaLysMetLeuLeuAspProAlaAlaProAlaGlnGluAlaGlyHisGlnLysValValPheTyrLeuLeuIleGlnArgLysProLeuPheTyrValIleAsnIleIleAlaProCysValLeuIleSerSerValAlaIleLeuIleHisPheLeuProAlaLysAlaGlyGlyGlnLysCysThrValAlaIleAsnValLeuLeuAlaGlnThrValPheLeuPheLeuValAlaLysLysValProGluThrSerGlnAlaValProLeuIleSerLysTyrLeuThrPheLeuLeuValValThrIleLeuIleValValAsnAlaValValValLeuAsnValSerLeuArgSerProHisThrHisSerMetAlaArgGlyValArgLysValPheLeuArgLeuLeuProGlnLeuLeuArgMetHisValArgProLeuAlaProAlaAlaValGlnAspThrGlnSerArgLeuGlnAsnGlySerSerGlyTrpSerIleThrThrGlyGluGluValAlaLeuCysLeuProArgSerGluLeuLeuPheGlnGlnTrpGlnArgGlnGlyLeuValAlaAlaAlaLeuGluLysLeuGluLysGlyProGluLeuGlyLeuSerGlnPheCysGlySerLeuLysGlnAlaAlaProAlaIleGlnAlaCysValGluAlaCysAsnLeuIleAlaCysAlaArgHisGlnGlnSerHisPheAspAsnGlyAsnGluGluTrpPheLeuValGlyArgValLeuAspArgValCysPheLeuAlaMetLeuSerLeuPheIleCysGlyThrAlaGlyIlePheLeuMetAlaHisTyrAsnArgValProAlaLeuProPheProGlyAspProArgProTyrLeuProSerProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000485094.1:n.295C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS324210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196607",
      "coordinates": [
        {
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          "end": 295,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005190.4:p.Arg92_Asp517delinsAspTyrGluGlyLeuTrpValLeuArgValProSerThrMetValTrpArgProAspIleValLeuGluAsnAsnValAspGlyValPheGluValAlaLeuTyrCysAsnValLeuValSerProAspGlyCysIleTyrTrpLeuProProAlaIlePheArgSerAlaCysSerIleSerValThrTyrPheProPheAspTrpGlnAsnCysSerLeuIlePheGlnSerGlnThrTyrSerThrAsnGluIleAspLeuGlnLeuSerGlnGluAspGlyGlnThrIleGluTrpIlePheIleAspProGluAlaPheThrGluAsnGlyGluTrpAlaIleGlnHisArgProAlaLysMetLeuLeuAspProAlaAlaProAlaGlnGluAlaGlyHisGlnLysValValPheTyrLeuLeuIleGlnArgLysProLeuPheTyrValIleAsnIleIleAlaProCysValLeuIleSerSerValAlaIleLeuIleHisPheLeuProAlaLysAlaGlyGlyGlnLysCysThrValAlaIleAsnValLeuLeuAlaGlnThrValPheLeuPheLeuValAlaLysLysValProGluThrSerGlnAlaValProLeuIleSerLysTyrLeuThrPheLeuLeuValValThrIleLeuIleValValAsnAlaValValValLeuAsnValSerLeuArgSerProHisThrHisSerMetAlaArgGlyValArgLysValPheLeuArgLeuLeuProGlnLeuLeuArgMetHisValArgProLeuAlaProAlaAlaValGlnAspThrGlnSerArgLeuGlnAsnGlySerSerGlyTrpSerIleThrThrGlyGluGluValAlaLeuCysLeuProArgSerGluLeuLeuPheGlnGlnTrpGlnArgGlnGlyLeuValAlaAlaAlaLeuGluLysLeuGluLysGlyProGluLeuGlyLeuSerGlnPheCysGlySerLeuLysGlnAlaAlaProAlaIleGlnAlaCysValGluAlaCysAsnLeuIleAlaCysAlaArgHisGlnGlnSerHisPheAspAsnGlyAsnGluGluTrpPheLeuValGlyArgValLeuAspArgValCysPheLeuAlaMetLeuSerLeuPheIleCysGlyThrAlaGlyIlePheLeuMetAlaHisTyrAsnArgValProAlaLeuProPheProGlyAspProArgProTyrLeuProSerProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196607",
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.5:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.Arg92Ter",
        "hgvsWellDefined": "NP_005190.4:p.Arg92_Asp517delinsAspTyrGluGlyLeuTrpValLeuArgValProSerThrMetValTrpArgProAspIleValLeuGluAsnAsnValAspGlyValPheGluValAlaLeuTyrCysAsnValLeuValSerProAspGlyCysIleTyrTrpLeuProProAlaIlePheArgSerAlaCysSerIleSerValThrTyrPheProPheAspTrpGlnAsnCysSerLeuIlePheGlnSerGlnThrTyrSerThrAsnGluIleAspLeuGlnLeuSerGlnGluAspGlyGlnThrIleGluTrpIlePheIleAspProGluAlaPheThrGluAsnGlyGluTrpAlaIleGlnHisArgProAlaLysMetLeuLeuAspProAlaAlaProAlaGlnGluAlaGlyHisGlnLysValValPheTyrLeuLeuIleGlnArgLysProLeuPheTyrValIleAsnIleIleAlaProCysValLeuIleSerSerValAlaIleLeuIleHisPheLeuProAlaLysAlaGlyGlyGlnLysCysThrValAlaIleAsnValLeuLeuAlaGlnThrValPheLeuPheLeuValAlaLysLysValProGluThrSerGlnAlaValProLeuIleSerLysTyrLeuThrPheLeuLeuValValThrIleLeuIleValValAsnAlaValValValLeuAsnValSerLeuArgSerProHisThrHisSerMetAlaArgGlyValArgLysValPheLeuArgLeuLeuProGlnLeuLeuArgMetHisValArgProLeuAlaProAlaAlaValGlnAspThrGlnSerArgLeuGlnAsnGlySerSerGlyTrpSerIleThrThrGlyGluGluValAlaLeuCysLeuProArgSerGluLeuLeuPheGlnGlnTrpGlnArgGlnGlyLeuValAlaAlaAlaLeuGluLysLeuGluLysGlyProGluLeuGlyLeuSerGlnPheCysGlySerLeuLysGlnAlaAlaProAlaIleGlnAlaCysValGluAlaCysAsnLeuIleAlaCysAlaArgHisGlnGlnSerHisPheAspAsnGlyAsnGluGluTrpPheLeuValGlyArgValLeuAspArgValCysPheLeuAlaMetLeuSerLeuPheIleCysGlyThrAlaGlyIlePheLeuMetAlaHisTyrAsnArgValProAlaLeuProPheProGlyAspProArgProTyrLeuProSerProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651502.1:c.274C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005199.5:c.274C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498757.1:p.Arg92Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.Arg92Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}