{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096094",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "NP_001421.2:p.Gly537Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118291",
          "hgvs": "NM_001430.5:c.1609G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346704496",
          "hgvs": "NM_001430.5:c.1609G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167363"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21508[alleleid]",
        "alleleId": 21508,
        "preferredName": "NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6469",
        "RCV": [
          "RCV000006842",
          "RCV001532400"
        ],
        "variationId": 6469
      }
    ]
  },
  "type": "amino-acid"
}