{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100826",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "E",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NP_001107227.1:p.Glu289Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126758",
          "hgvs": "NM_001113755.3:c.866A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151753"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31692[alleleid]",
        "alleleId": 31692,
        "preferredName": "NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16653",
        "RCV": [
          "RCV000018133",
          "RCV000498727",
          "RCV001276276"
        ],
        "variationId": 16653
      }
    ]
  },
  "type": "amino-acid"
}