{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499231890",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NP_000374.1:p.Gly306Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10051858",
          "hgvs": "NM_000383.4:c.916G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410424866",
          "hgvs": "NM_000383.4:c.916G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1207626[alleleid]",
        "alleleId": 1207626,
        "preferredName": "NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1217643",
        "RCV": [
          "RCV001589902",
          "RCV001729959"
        ],
        "variationId": 1217643
      }
    ]
  },
  "type": "amino-acid"
}