{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139670799",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 275,
          "referenceAllele": "Q",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NP_000374.1:p.Gln275His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321793296",
          "hgvs": "NM_000383.4:c.825G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410424663",
          "hgvs": "NM_000383.4:c.825G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=958976[alleleid]",
        "alleleId": 958976,
        "preferredName": "NM_000383.4(AIRE):c.825G>C (p.Gln275His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/971598",
        "RCV": [
          "RCV001247413",
          "RCV004034893"
        ],
        "variationId": 971598
      }
    ]
  },
  "type": "amino-acid"
}