{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104311",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "Y",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "NP_001130.1:p.Tyr521Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261173",
          "hgvs": "NM_001139.3:c.1562A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153173"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48145[alleleid]",
        "alleleId": 48145,
        "preferredName": "NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39546",
        "RCV": [
          "RCV000032744",
          "RCV000413764",
          "RCV000414880",
          "RCV002222361"
        ],
        "variationId": 39546
      }
    ]
  },
  "type": "amino-acid"
}