{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830405499",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 457,
          "referenceAllele": "R",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NP_870986.1:p.Arg457Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1143990",
          "hgvs": "NM_181871.4:c.1370G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=433823[alleleid]",
        "alleleId": 433823,
        "preferredName": "NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/440152",
        "RCV": [
          "RCV000508434",
          "RCV003133292",
          "RCV004554794"
        ],
        "variationId": 440152
      }
    ]
  },
  "type": "amino-acid"
}