{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827604347",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 597,
          "referenceAllele": "R",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NP_001338225.1:p.Arg597Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379816909",
          "hgvs": "NM_001351296.2:c.1790G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514008[alleleid]",
        "alleleId": 514008,
        "preferredName": "NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523361",
        "RCV": [
          "RCV000626669"
        ],
        "variationId": 523361
      }
    ]
  },
  "type": "amino-acid"
}