{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826160235",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "R",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NP_001177387.1:p.Arg1054Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4958695",
          "hgvs": "NM_001190458.2:c.3160C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156646"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407710[alleleid]",
        "alleleId": 407710,
        "preferredName": "NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418766",
        "RCV": [
          "RCV000479850",
          "RCV001086901",
          "RCV003925401",
          "RCV003762746",
          "RCV001821389"
        ],
        "variationId": 418766
      }
    ]
  },
  "type": "amino-acid"
}