{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103675",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 231,
          "referenceAllele": "Q",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "NP_000388.2:p.Gln231Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128804",
          "hgvs": "NM_000397.4:c.692A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146940"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38924[alleleid]",
        "alleleId": 38924,
        "preferredName": "NM_000397.4(CYBB):c.692A>C (p.Gln231Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29969",
        "RCV": [
          "RCV000022861",
          "RCV000059275",
          "RCV000208611"
        ],
        "variationId": 29969
      }
    ]
  },
  "type": "amino-acid"
}