{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828052885",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 522,
          "referenceAllele": "P",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NP_001344250.1:p.Pro522Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1637546",
          "hgvs": "NM_001357321.2:c.1565C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625433"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=289801[alleleid]",
        "alleleId": 289801,
        "preferredName": "NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/336084",
        "RCV": [
          "RCV000357070",
          "RCV001699467",
          "RCV002402061"
        ],
        "variationId": 336084
      }
    ]
  },
  "type": "amino-acid"
}