{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116140",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18349[alleleid]",
        "alleleId": 18349,
        "preferredName": "NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3310",
        "RCV": [
          "RCV000169129",
          "RCV000412909"
        ],
        "variationId": 3310
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-45706968-C-T",
        "id": "21-45706968-C-T",
        "variant": "21:45706968 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45706968C>T?assembly=hg19",
        "id": "chr21:g.45706968C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.44287085C>T?assembly=hg38",
        "id": "chr21:g.44287085C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434256",
        "rs": 121434256
      }
    ],
    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/21-45706968-C-T?dataset=gnomad_r2_1",
        "id": "21-45706968-C-T",
        "variant": "21:45706968 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-44287085-C-T?dataset=gnomad_r3",
        "id": "21-44287085-C-T",
        "variant": "21:44287085 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-44287085-C-T?dataset=gnomad_r4",
        "id": "21-44287085-C-T",
        "variant": "21:44287085 C / T"
      }
    ]
  },
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      "chromosome": "21",
      "coordinates": [
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          "end": 44287085,
          "referenceAllele": "C",
          "start": 44287084
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      ],
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        "CM000683.2:g.44287085C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
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          "end": 45706968,
          "referenceAllele": "C",
          "start": 45706967
        }
      ],
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        "CM000683.1:g.45706968C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 44531396,
          "referenceAllele": "C",
          "start": 44531395
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
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          "end": 6206,
          "referenceAllele": "C",
          "start": 6205
        }
      ],
      "hgvs": [
        "NG_009556.1:g.6206C>T",
        "LRG_18:g.6206C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
  ],
  "transcriptAlleles": [
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          "start": 545
        }
      ],
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      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744080",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "NM_000383.4:c.415C>T"
          }
        },
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          }
        }
      }
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    {
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          "start": 541
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      "geneSymbol": "AIRE",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
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      ],
      "gene": "http://reg.genome.network/gene/GN000360",
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      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000527919.5:n.576C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 583
        }
      ],
      "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/PA116142",
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
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        }
      ],
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      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NM_000383.3:c.415C>T"
      ],
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        "hgvsWellDefined": "NP_000374.1:p.Arg139_Ser545delinsAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnLysAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN000360",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527853.1:p.Arg139_Ser544delinsAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116142",
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
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      "geneSymbol": "AIRE",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000374.1:p.Arg139_Ser545delinsAlaAlaAlaProAlaAlaLeuThrProArgGlyThrAlaSerProGlySerGlnLeuLysAlaLysProProLysLysProGluSerSerAlaGluGlnGlnArgLeuProLeuGlyAsnGlyIleGlnThrMetSerAlaSerValGlnArgAlaValAlaMetSerSerGlyAspValProGlyAlaArgGlyAlaValGluGlyIleLeuIleGlnGlnValPheGluSerGlyGlySerLysLysCysIleGlnValGlyGlyGluPheTyrThrProSerLysPheGluAspSerGlySerGlyLysAsnLysAlaArgSerSerSerGlyProLysProLeuValArgAlaLysGlyAlaGlnGlyAlaAlaProGlyGlyGlyGluAlaArgLeuGlyGlnGlnGlySerValProAlaProLeuAlaLeuProSerAspProGlnLeuHisGlnLysAsnGluAspGluCysAlaValCysArgAspGlyGlyGluLeuIleCysCysAspGlyCysProArgAlaPheHisLeuAlaCysLeuSerProProLeuArgGluIleProSerGlyThrTrpArgCysSerSerCysLeuGlnAlaThrValGlnGluValGlnProArgAlaGluGluProArgProGlnGluProProValGluThrProLeuProProGlyLeuArgSerAlaGlyGluGluValArgGlyProProGlyGluProLeuAlaGlyMetAspThrThrLeuValTyrLysHisLeuProAlaProProSerAlaAlaProLeuProGlyLeuAspSerSerAlaLeuHisProLeuLeuCysValGlyProGluGlyGlnGlnAsnLeuAlaProGlyAlaArgCysGlyValCysGlyAspGlyThrAspValLeuArgCysThrHisCysAlaAlaAlaPheHisTrpArgCysHisPheProAlaGlyThrSerArgProGlyThrGlyLeuArgCysArgSerCysSerGlyAspValThrProAlaProValGluGlyValLeuAlaProSerProAlaArgLeuAlaProGlyProAlaLysAspAspThrAlaSerHisGluProAlaLeuHisArgAspAspLeuGluSerLeuLeuSerGluHisThrPheAspGlyIleLeuGlnTrpAlaIleGlnSerMetAlaArgProAlaAlaProPheProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000291582.6:c.415C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000383.4:c.415C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000291582.5:p.Arg139Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Arg139Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}