{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350582894",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971735[alleleid]",
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        "preferredName": "NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984083",
        "RCV": [
          "RCV001264088"
        ],
        "variationId": 984083
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219674308C>A?assembly=hg19",
        "id": "chr2:g.219674308C>A"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218809585C>A?assembly=hg38",
        "id": "chr2:g.218809585C>A"
      }
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1943689487",
        "rs": 1943689487
      }
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    {
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    },
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      "referenceGenome": "NCBI36",
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      "hgvs": [
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      },
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          }
        },
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            "hgvs": "NP_000775.1:p.Tyr88Ter"
          }
        }
      }
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
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      ],
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      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS282268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "endIntronDirection": "-",
          "endIntronOffset": 2636,
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          "startIntronOffset": 2637
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      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
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          "endIntronDirection": "-",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
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      "geneSymbol": "CYP27A1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN002605",
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      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.698C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680493",
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      ],
      "gene": "http://reg.genome.network/gene/GN002605",
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      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.264C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000775.1:p.Tyr88_Cys531delinsLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "endIntronDirection": "-",
          "endIntronOffset": 2636,
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          "startIntronOffset": 2637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680493",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN002605",
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      "geneSymbol": "CYP27A1",
      "hgvs": [
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        "hgvsWellDefined": "NP_000775.1:p.Tyr88_Cys531delinsLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000784.4:c.264C>A"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Tyr88Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}