{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826929019",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 599,
          "referenceAllele": "R",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NP_001295099.1:p.Arg599His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA156218",
          "hgvs": "NM_001308170.1:c.1796G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136562[alleleid]",
        "alleleId": 136562,
        "preferredName": "NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132813",
        "RCV": [
          "RCV000119282",
          "RCV002515805",
          "RCV003343648"
        ],
        "variationId": 132813
      }
    ]
  },
  "type": "amino-acid"
}