{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741816750",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 93,
          "referenceAllele": "L",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NP_000374.1:p.Leu93Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410423498",
          "hgvs": "NM_000383.4:c.278T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2534135[alleleid]",
        "alleleId": 2534135,
        "preferredName": "NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501923",
        "RCV": [
          "RCV003228342",
          "RCV003779824"
        ],
        "variationId": 2501923
      }
    ]
  },
  "type": "amino-acid"
}