{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828052686",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NP_001344250.1:p.Cys373Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1637285",
          "hgvs": "NM_001357321.2:c.1117T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625433"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=289409[alleleid]",
        "alleleId": 289409,
        "preferredName": "NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/336075",
        "RCV": [
          "RCV000333238",
          "RCV000595016",
          "RCV002436203",
          "RCV003950162",
          "RCV002519974"
        ],
        "variationId": 336075
      }
    ]
  },
  "type": "amino-acid"
}