{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139720057",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 483,
          "referenceAllele": "R",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NP_055660.1:p.Arg483Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3956101",
          "hgvs": "NM_014845.6:c.1448G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861345[alleleid]",
        "alleleId": 861345,
        "preferredName": "NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873301",
        "RCV": [
          "RCV001095517",
          "RCV001555730"
        ],
        "variationId": 873301
      }
    ]
  },
  "type": "amino-acid"
}