{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828052441",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 164,
          "referenceAllele": "R",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NP_001344250.1:p.Arg164Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1637032",
          "hgvs": "NM_001357321.2:c.491G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625433"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272701[alleleid]",
        "alleleId": 272701,
        "preferredName": "NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288464",
        "RCV": [
          "RCV000395777",
          "RCV001139254",
          "RCV001514945",
          "RCV002494877",
          "RCV002348017",
          "RCV003930153"
        ],
        "variationId": 288464
      }
    ]
  },
  "type": "amino-acid"
}