{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111569",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 739,
          "referenceAllele": "R",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NP_000866.1:p.Arg739Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124314",
          "hgvs": "NM_000875.5:c.2216G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147378"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29832[alleleid]",
        "alleleId": 29832,
        "preferredName": "NM_000875.5(IGF1R):c.2216G>A (p.Arg739Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14793",
        "RCV": [
          "RCV000015916",
          "RCV003886361"
        ],
        "variationId": 14793
      }
    ]
  },
  "type": "amino-acid"
}