{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110728",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 473,
          "referenceAllele": "K",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NP_982272.2:p.Lys473Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114673",
          "hgvs": "NM_203447.4:c.1418A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185726"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15988[alleleid]",
        "alleleId": 15988,
        "preferredName": "NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/949",
        "RCV": [
          "RCV000000999",
          "RCV003595851"
        ],
        "variationId": 949
      }
    ]
  },
  "type": "amino-acid"
}