{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499305211",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1509,
          "referenceAllele": "H",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NP_982272.2:p.His1509Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4959117",
          "hgvs": "NM_203447.4:c.4527C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA372766343",
          "hgvs": "NM_203447.4:c.4527C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185726"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=993505[alleleid]",
        "alleleId": 993505,
        "preferredName": "NM_203447.4(DOCK8):c.4527C>G (p.His1509Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1006702",
        "RCV": [
          "RCV001303786",
          "RCV001819993"
        ],
        "variationId": 1006702
      }
    ]
  },
  "type": "amino-acid"
}