{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829936416",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NP_065971.2:p.Gly1043Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16607584",
          "hgvs": "NM_020920.4:c.3127G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177219"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=375917[alleleid]",
        "alleleId": 375917,
        "preferredName": "NM_001170629.2(CHD8):c.3964G>C (p.Gly1322Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390288",
        "RCV": [
          "RCV000432820"
        ],
        "variationId": 390288
      }
    ]
  },
  "type": "amino-acid"
}