{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10051509",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868552[alleleid]",
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        "preferredName": "NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138397",
        "RCV": [
          "RCV003050568"
        ],
        "variationId": 2138397
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-45706587-C-T",
        "id": "21-45706587-C-T",
        "variant": "21:45706587 C / T"
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45706587C>T?assembly=hg19",
        "id": "chr21:g.45706587C>T"
      }
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr21:g.44286704C>T?assembly=hg38",
        "id": "chr21:g.44286704C>T"
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    "dbSNP": [
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        "@id": "http://gnomad.broadinstitute.org/variant/21-45706587-C-T?dataset=gnomad_r2_1",
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      }
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-44286704-C-T?dataset=gnomad_r3",
        "id": "21-44286704-C-T",
        "variant": "21:44286704 C / T"
      }
    ],
    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/21-44286704-C-T?dataset=gnomad_r4",
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    ]
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
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          "start": 44531014
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "end": 5825,
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          "start": 5824
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        "LRG_18:g.5825C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
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          "start": 406
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
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      "geneSymbol": "AIRE",
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      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
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          "allele": "T",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
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      "gene": "http://reg.genome.network/gene/GN000360",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS356007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580114086",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006445"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580114086",
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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        "hgvsWellDefined": "NP_000374.1:p.Gln94_Ser545delinsProIleLeuAspSerPheProLysAspValAspLeuSerGlnProArgLysGlyArgLysProProAlaValProLysAlaLeuValProProProArgLeuProThrLysArgLysAlaSerGluGluAlaArgAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnLysAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000383.4:c.280C>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}