{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499248015",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 117,
          "referenceAllele": "Q",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "NP_001305051.1:p.Gln117Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374949954",
          "hgvs": "NM_001318122.2:c.349C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS661023"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1151090[alleleid]",
        "alleleId": 1151090,
        "preferredName": "NM_000476.3(AK1):c.301C>A (p.Gln101Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1162194",
        "RCV": [
          "RCV001506969",
          "RCV001526690"
        ],
        "variationId": 1162194
      }
    ]
  },
  "type": "amino-acid"
}