{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916026491",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 80,
          "referenceAllele": "K",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NP_001308980.1:p.Lys80Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251993",
          "hgvs": "NM_001322051.2:c.239A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648373"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16993[alleleid]",
        "alleleId": 16993,
        "preferredName": "NM_000022.4(ADA):c.239A>G (p.Lys80Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1954",
        "RCV": [
          "RCV000002031",
          "RCV000247281",
          "RCV001711065"
        ],
        "variationId": 1954
      }
    ]
  },
  "type": "amino-acid"
}