{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1637031",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=188854",
        "active": true,
        "id": "COSM188854"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2141708[alleleid]",
        "alleleId": 2141708,
        "preferredName": "NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2076036",
        "RCV": [
          "RCV002968099"
        ],
        "variationId": 2076036
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44078890-C-T",
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        "variant": "2:44078890 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44078890C>T?assembly=hg19",
        "id": "chr2:g.44078890C>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43851751C>T?assembly=hg38",
        "id": "chr2:g.43851751C>T"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/780072835",
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        "@id": "http://gnomad.broadinstitute.org/variant/2-44078890-C-T?dataset=gnomad_r2_1",
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    {
      "chromosome": "2",
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      "referenceGenome": "GRCh37",
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    {
      "chromosome": "2",
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      "referenceGenome": "NCBI36",
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
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      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580453601",
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      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
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      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
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      "coordinates": [
        {
          "allele": "T",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580453601",
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.490C>T"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.490C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.490C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Arg164Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Arg164Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052443",
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.490C>T"
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      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Arg164Ter",
        "hgvsWellDefined": "NP_001344250.1:p.Arg164_Trp672delinsGluThrLeuAlaPheIleAlaGlnMetArgLeuProArgThrPheSerGlnAlaGlnArgAspLysArgValGluAspValIleAlaGluLeuArgLeuArgGlnCysAlaAspThrArgValGlyAsnMetTyrValArgGlyLeuSerGlyGlyGluArgArgArgValSerIleGlyValGlnLeuLeuTrpAsnProGlyIleLeuIleLeuAspGluProThrSerGlyLeuAspSerPheThrAlaHisAsnLeuValLysThrLeuSerArgLeuAlaLysGlyAsnArgLeuValLeuIleSerLeuHisGlnProArgSerAspIlePheArgLeuPheAspLeuValLeuLeuMetThrSerGlyThrProIleTyrLeuGlyAlaAlaGlnHisMetValGlnTyrPheThrAlaIleGlyTyrProCysProArgTyrSerAsnProAlaAspPheTyrValAspLeuThrSerIleAspArgArgSerArgGluGlnGluLeuAlaThrArgGluLysAlaGlnSerLeuAlaAlaLeuPheLeuGluLysValArgAspLeuAspAspPheLeuTrpLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}