{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350576025",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2933820[alleleid]",
        "alleleId": 2933820,
        "preferredName": "NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2772668",
        "RCV": [
          "RCV003504062"
        ],
        "variationId": 2772668
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219647020A>T?assembly=hg19",
        "id": "chr2:g.219647020A>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218782297A>T?assembly=hg38",
        "id": "chr2:g.218782297A>T"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2470201839",
        "rs": 2470201839
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      "chromosome": "2",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
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    {
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      "referenceGenome": "NCBI36",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741905",
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_000784.4:c.115A>T"
          }
        },
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            "hgvs": "ENSP00000258415.4:p.Lys39Ter"
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          }
        }
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    },
    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "A",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000445971.1:c.115A>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000404945.1:p.Lys39_Gln115delinsAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnGlyArgThrProLeuValProAlaAlaProGlySerGluProAlaValAlaGluAlaSerGlySerSerAlaLeuTyrGlyCysPheGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "A",
          "start": 123
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      ],
      "gene": "http://reg.genome.network/gene/GN002605",
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      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000466602.1:n.124A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
    },
    {
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.549A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741818895",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN002605",
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      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.115A>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000775.1:p.Lys39_Cys531delinsAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnValLeuTyrLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "XM_017003488.2:c.-115A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858977.1:n.-115A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741818895",
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "referenceAllele": "A",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.4:c.115A>T"
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      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Lys39Ter",
        "hgvsWellDefined": "NP_000775.1:p.Lys39_Cys531delinsAlaThrGlyAlaProGlyAlaGlyProGlyValArgArgArgGlnArgSerLeuGluGluIleProArgLeuGlyGlnLeuArgPhePhePheGlnLeuPheValGlnGlyTyrAlaLeuGlnLeuHisGlnLeuGlnValLeuTyrLysAlaLysTyrGlyProMetTrpMetSerTyrLeuGlyProGlnMetHisValAsnLeuAlaSerAlaProLeuLeuGluGlnValMetArgGlnGluGlyLysTyrProValArgAsnAspMetGluLeuTrpLysGluHisArgAspGlnHisAspLeuThrTyrGlyProPheThrThrGluGlyHisHisTrpTyrGlnLeuArgGlnAlaLeuAsnGlnArgLeuLeuLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.115A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.115A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Lys39Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Lys39Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}