{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA45511622",
  "communityStandardTitle": [
    "NM_000104.4(CYP1B1):c.243C>A (p.Tyr81Ter)"
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  "externalRecords": {
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        "@id": "http://myvariant.info/v1/variant/chr2:g.38302289G>T?assembly=hg19",
        "id": "chr2:g.38302289G>T"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/72480437",
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        "@id": "http://gnomad.broadinstitute.org/variant/2-38075146-G-T?dataset=gnomad_r4",
        "id": "2-38075146-G-T",
        "variant": "2:38075146 G / T"
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    ]
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    },
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          "end": 38302289,
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      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
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        {
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          "end": 38155793,
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          "start": 38155792
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
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          "end": 5956,
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          "start": 5955
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS914164"
    },
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      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761798",
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          }
        },
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            "hgvs": "NP_000095.2:p.Tyr81Ter"
          }
        }
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS328364"
    },
    {
      "coordinates": [
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          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 3835,
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          "startIntronOffset": 3836
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      ],
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        "hgvs": "ENSP00000479876.1:n.-70-3836C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS331691"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400554"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "+",
          "endIntronOffset": 634,
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          "start": 375,
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          "startIntronOffset": 633
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      ],
      "gene": "http://reg.genome.network/gene/GN002597",
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      "referenceSequence": "http://reg.genome.network/refseq/RS401593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
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          "start": 544
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      ],
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      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000483678.1:p.Tyr81_Gln543delinsGlyAspValPheGlnIleArgLeuGlySerCysProIleValValLeuAsnGlyGluArgAlaIleHisGlnAlaLeuValGlnGlnGlySerAlaPheAlaAspArgProAlaPheAlaSerPheArgValValSerGlyGlyArgSerMetAlaPheGlyHisTyrSerGluHisTrpLysValGlnArgArgAlaAlaHisSerMetMetArgAsnPhePheThrArgGlnProArgSerArgGlnValLeuGluGlyHisValLeuSerGluAlaArgGluLeuValAlaLeuLeuValArgGlySerAlaAspGlyAlaPheLeuAspProArgProLeuThrValValAlaValAlaAsnValMetSerAlaValCysPheGlyCysArgTyrSerHisAspAspProGluPheArgGluLeuLeuSerHisAsnGluGluPheGlyArgThrValGlyAlaGlySerLeuValAspValMetProTrpLeuGlnTyrPheProAsnProValArgThrValPheArgGluPheGluGlnLeuAsnArgAsnPheSerAsnPheIleLeuAspLysPheLeuArgHisCysGluSerLeuArgProGlyAlaAlaProArgAspMetMetAspAlaPheIleLeuSerAlaGluLysLysAlaAlaGlyAspSerHisGlyGlyGlyAlaArgLeuAspLeuGluAsnValProAlaThrIleThrAspIlePheGlyAlaSerGlnAspThrLeuSerThrAlaLeuGlnTrpLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809178",
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
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          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
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      "hgvs": [
        "NM_000104.3:c.243C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000095.2:p.Tyr81_Gln543delinsGlyAspValPheGlnIleArgLeuGlySerCysProIleValValLeuAsnGlyGluArgAlaIleHisGlnAlaLeuValGlnGlnGlySerAlaPheAlaAspArgProAlaPheAlaSerPheArgValValSerGlyGlyArgSerMetAlaPheGlyHisTyrSerGluHisTrpLysValGlnArgArgAlaAlaHisSerMetMetArgAsnPhePheThrArgGlnProArgSerArgGlnValLeuGluGlyHisValLeuSerGluAlaArgGluLeuValAlaLeuLeuValArgGlySerAlaAspGlyAlaPheLeuAspProArgProLeuThrValValAlaValAlaAsnValMetSerAlaValCysPheGlyCysArgTyrSerHisAspAspProGluPheArgGluLeuLeuSerHisAsnGluGluPheGlyArgThrValGlyAlaGlySerLeuValAspValMetProTrpLeuGlnTyrPheProAsnProValArgThrValPheArgGluPheGluGlnLeuAsnArgAsnPheSerAsnPheIleLeuAspLysPheLeuArgHisCysGluSerLeuArgProGlyAlaAlaProArgAspMetMetAspAlaPheIleLeuSerAlaGluLysLysAlaAlaGlyAspSerHisGlyGlyGlyAlaArgLeuAspLeuGluAsnValProAlaThrIleThrAspIlePheGlyAlaSerGlnAspThrLeuSerThrAlaLeuGlnTrpLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809178",
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
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          "start": 615
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000095.2:p.Tyr81_Gln543delinsGlyAspValPheGlnIleArgLeuGlySerCysProIleValValLeuAsnGlyGluArgAlaIleHisGlnAlaLeuValGlnGlnGlySerAlaPheAlaAspArgProAlaPheAlaSerPheArgValValSerGlyGlyArgSerMetAlaPheGlyHisTyrSerGluHisTrpLysValGlnArgArgAlaAlaHisSerMetMetArgAsnPhePheThrArgGlnProArgSerArgGlnValLeuGluGlyHisValLeuSerGluAlaArgGluLeuValAlaLeuLeuValArgGlySerAlaAspGlyAlaPheLeuAspProArgProLeuThrValValAlaValAlaAsnValMetSerAlaValCysPheGlyCysArgTyrSerHisAspAspProGluPheArgGluLeuLeuSerHisAsnGluGluPheGlyArgThrValGlyAlaGlySerLeuValAspValMetProTrpLeuGlnTyrPheProAsnProValArgThrValPheArgGluPheGluGlnLeuAsnArgAsnPheSerAsnPheIleLeuAspLysPheLeuArgHisCysGluSerLeuArgProGlyAlaAlaProArgAspMetMetAspAlaPheIleLeuSerAlaGluLysLysAlaAlaGlyAspSerHisGlyGlyGlyAlaArgLeuAspLeuGluAsnValProAlaThrIleThrAspIlePheGlyAlaSerGlnAspThrLeuSerThrAlaLeuGlnTrpLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Tyr81Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Tyr81Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}