{
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  "@id": "http://reg.genome.network/allele/CA410423348",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.205C>T (p.Gln69Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1444935[alleleid]",
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        "preferredName": "NM_000383.4(AIRE):c.205C>T (p.Gln69Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1454596",
        "RCV": [
          "RCV001960703"
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        "variationId": 1454596
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45706512C>T?assembly=hg19",
        "id": "chr21:g.45706512C>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr21:g.44286629C>T?assembly=hg38",
        "id": "chr21:g.44286629C>T"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2146375836",
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/21-44286629-C-T?dataset=gnomad_r4",
        "id": "21-44286629-C-T",
        "variant": "21:44286629 C / T"
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      "coordinates": [
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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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          "end": 44530940,
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
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      ],
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        "NG_009556.1:g.5750C>T",
        "LRG_18:g.5750C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
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      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
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      "geneSymbol": "AIRE",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS356007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166487",
      "coordinates": [
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          "end": 374,
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      ],
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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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        "hgvsWellDefined": "XP_011527853.1:p.Gln69_Ser544delinsAspSerThrAlaIleLeuAspPheTrpArgValLeuPheLysAspTyrAsnLeuGluArgTyrGlyArgLeuGlnProIleLeuAspSerPheProLysAspValAspLeuSerGlnProArgLysGlyArgLysProProAlaValProLysAlaLeuValProProProArgLeuProThrLysArgLysAlaSerGluGluAlaArgAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573166487",
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000374.1:p.Gln69_Ser545delinsAspSerThrAlaIleLeuAspPheTrpArgValLeuPheLysAspTyrAsnLeuGluArgTyrGlyArgLeuGlnProIleLeuAspSerPheProLysAspValAspLeuSerGlnProArgLysGlyArgLysProProAlaValProLysAlaLeuValProProProArgLeuProThrLysArgLysAlaSerGluGluAlaArgAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnLysAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000291582.6:c.205C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000383.4:c.205C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000291582.5:p.Gln69Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Gln69Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}