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  "@id": "http://reg.genome.network/allele/CA410423607",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.322C>T (p.Gln108Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=929346[alleleid]",
        "alleleId": 929346,
        "preferredName": "NM_000383.4(AIRE):c.322C>T (p.Gln108Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/950721",
        "RCV": [
          "RCV001222494"
        ],
        "variationId": 950721
      }
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        "@id": "http://myvariant.info/v1/variant/chr21:g.45706875C>T?assembly=hg19",
        "id": "chr21:g.45706875C>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr21:g.44286992C>T?assembly=hg38",
        "id": "chr21:g.44286992C>T"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1472808103",
        "rs": 1472808103
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        "id": "21-45706875-C-T",
        "variant": "21:45706875 C / T"
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-44286992-C-T?dataset=gnomad_r4",
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        "variant": "21:44286992 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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          "end": 45706875,
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
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          "end": 44531303,
          "referenceAllele": "C",
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 6112
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        "LRG_18:g.6113C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
  ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 482
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      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000527919.5:n.483C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 490
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      ],
      "gene": "http://reg.genome.network/gene/GN000360",
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      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000530812.5:n.491C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS356007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670517",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006445"
    },
    {
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527853.1:p.Gln108_Ser544delinsProArgLysGlyArgLysProProAlaValProLysAlaLeuValProProProArgLeuProThrLysArgLysAlaSerGluGluAlaArgAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670517",
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000374.1:p.Gln108_Ser545delinsProArgLysGlyArgLysProProAlaValProLysAlaLeuValProProProArgLeuProThrLysArgLysAlaSerGluGluAlaArgAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnLysAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NM_000383.4:c.322C>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Gln108Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}