{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042012",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.233G>A (p.Trp78Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358650[alleleid]",
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        "preferredName": "NM_000383.4(AIRE):c.233G>A (p.Trp78Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370451",
        "RCV": [
          "RCV000409857"
        ],
        "variationId": 370451
      }
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        "@id": "http://myvariant.info/v1/variant/chr21:g.45706540G>A?assembly=hg19",
        "id": "chr21:g.45706540G>A"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr21:g.44286657G>A?assembly=hg38",
        "id": "chr21:g.44286657G>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516499",
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        "@id": "http://gnomad.broadinstitute.org/variant/21-44286657-G-A?dataset=gnomad_r4",
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    },
    {
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          "end": 45706540,
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
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          "end": 44530968,
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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        "NG_009556.1:g.5778G>A",
        "LRG_18:g.5778G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
  ],
  "transcriptAlleles": [
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      },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
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          "allele": "A",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
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      ],
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      "geneSymbol": "AIRE",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645473821",
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        {
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          "end": 402,
          "referenceAllele": "G",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527853.1:p.Trp78_Ser544delinsArgValLeuPheLysAspTyrAsnLeuGluArgTyrGlyArgLeuGlnProIleLeuAspSerPheProLysAspValAspLeuSerGlnProArgLysGlyArgLysProProAlaValProLysAlaLeuValProProProArgLeuProThrLysArgLysAlaSerGluGluAlaArgAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645473821",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000291582.5:p.Trp78Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Trp78Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}