{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830405535",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 479,
          "referenceAllele": "R",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NP_870986.1:p.Arg479Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215079",
          "hgvs": "NM_181871.4:c.1436G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16550[alleleid]",
        "alleleId": 16550,
        "preferredName": "NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1511",
        "RCV": [
          "RCV000001575",
          "RCV000224660",
          "RCV003421893"
        ],
        "variationId": 1511
      }
    ]
  },
  "type": "amino-acid"
}