{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827605487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 500,
          "referenceAllele": "E",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NP_001338226.1:p.Glu500Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5903548",
          "hgvs": "NM_001351297.2:c.1498G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625508"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545934[alleleid]",
        "alleleId": 545934,
        "preferredName": "NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558304",
        "RCV": [
          "RCV000674549",
          "RCV001383752",
          "RCV002283504",
          "RCV002509505",
          "RCV003465538"
        ],
        "variationId": 558304
      }
    ]
  },
  "type": "amino-acid"
}