{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104157",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 597,
          "referenceAllele": "A",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "NP_001130.1:p.Ala597Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8367177",
          "hgvs": "NM_001139.3:c.1790C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153173"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260198[alleleid]",
        "alleleId": 260198,
        "preferredName": "NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265039",
        "RCV": [
          "RCV000255637",
          "RCV001289939",
          "RCV003155138"
        ],
        "variationId": 265039
      }
    ]
  },
  "type": "amino-acid"
}