{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139686725",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "K",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "NP_000388.2:p.Lys499Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10383908",
          "hgvs": "NM_000397.4:c.1496A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146940"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=850027[alleleid]",
        "alleleId": 850027,
        "preferredName": "NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/858051",
        "RCV": [
          "RCV001063853",
          "RCV001274392",
          "RCV002222665"
        ],
        "variationId": 858051
      }
    ]
  },
  "type": "amino-acid"
}