{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573166570",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 247,
          "referenceAllele": "R",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NP_000374.1:p.Arg247His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10051695",
          "hgvs": "NM_000383.4:c.740G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1356279[alleleid]",
        "alleleId": 1356279,
        "preferredName": "NM_000383.4(AIRE):c.740G>A (p.Arg247His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1412681",
        "RCV": [
          "RCV001923373"
        ],
        "variationId": 1412681
      }
    ]
  },
  "type": "amino-acid"
}