{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830405489",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 448,
          "referenceAllele": "R",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NP_870986.1:p.Arg448His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215078",
          "hgvs": "NM_181871.4:c.1343G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16549[alleleid]",
        "alleleId": 16549,
        "preferredName": "NM_000298.6(PKLR):c.1436G>A (p.Arg479His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1510",
        "RCV": [
          "RCV000001574",
          "RCV001781165"
        ],
        "variationId": 1510
      }
    ]
  },
  "type": "amino-acid"
}