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  "@id": "http://reg.genome.network/allele/CA410424104",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.560C>G (p.Ser187Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064914[alleleid]",
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        "preferredName": "NM_000383.4(AIRE):c.560C>G (p.Ser187Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074719",
        "RCV": [
          "RCV001388127"
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        "variationId": 1074719
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45708249C>G?assembly=hg19",
        "id": "chr21:g.45708249C>G"
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        "@id": "http://myvariant.info/v1/variant/chr21:g.44288366C>G?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/143952576",
        "rs": 143952576
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    },
    {
      "chromosome": "21",
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    },
    {
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    },
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        "LRG_18:g.7487C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
  ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744080",
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          }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
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          "allele": "G",
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          "referenceAllele": "C",
          "start": 1103
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      ],
      "gene": "http://reg.genome.network/gene/GN000360",
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      "hgvs": [
        "ENST00000527919.5:n.1104C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
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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/PA2499231883",
      "coordinates": [
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          "end": 729,
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      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NM_000383.3:c.560C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000374.1:p.Ser187_Ser545delinsValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnLysAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006445"
    },
    {
      "coordinates": [
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499231883",
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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        "protein": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}