{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828806889",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 498,
          "referenceAllele": "R",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023399",
      "geneNCBI_id": 158326,
      "geneSymbol": "FREM1",
      "hgvs": [
        "NP_001366010.1:p.Arg498Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129451",
          "hgvs": "NM_001379081.2:c.1493G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39724[alleleid]",
        "alleleId": 39724,
        "preferredName": "NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30767",
        "RCV": [
          "RCV000023746",
          "RCV000059636",
          "RCV000207399",
          "RCV000988143"
        ],
        "variationId": 30767
      }
    ]
  },
  "type": "amino-acid"
}