{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829842032",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 172,
          "referenceAllele": "Q",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004810",
      "geneNCBI_id": 51179,
      "geneSymbol": "HAO2",
      "hgvs": [
        "NP_057611.1:p.Gln172Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1035658",
          "hgvs": "NM_016527.4:c.514C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175292"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2247410[alleleid]",
        "alleleId": 2247410,
        "preferredName": "NM_016527.4(HAO2):c.514C>A (p.Gln172Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2258000",
        "RCV": [
          "RCV004108742"
        ],
        "variationId": 2258000
      }
    ]
  },
  "type": "amino-acid"
}