{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093364",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 209,
          "referenceAllele": "R",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NP_001029288.1:p.Arg209Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1576829",
          "hgvs": "NM_001034116.2:c.626G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149659"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405711[alleleid]",
        "alleleId": 405711,
        "preferredName": "NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420063",
        "RCV": [
          "RCV000486128",
          "RCV000985031",
          "RCV002525826"
        ],
        "variationId": 420063
      }
    ]
  },
  "type": "amino-acid"
}