{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829936123",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "R",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NP_065971.2:p.Arg299Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388880070",
          "hgvs": "NM_020920.4:c.895C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177219"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=858734[alleleid]",
        "alleleId": 858734,
        "preferredName": "NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/870572",
        "RCV": [
          "RCV001090133",
          "RCV003229877"
        ],
        "variationId": 870572
      }
    ]
  },
  "type": "amino-acid"
}