{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828915214",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 388,
          "referenceAllele": "Q",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001369637.1:p.Gln388Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350694726",
          "hgvs": "NM_001382708.1:c.1163A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739175"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1773631[alleleid]",
        "alleleId": 1773631,
        "preferredName": "NM_001927.4(DES):c.1166A>G (p.Gln389Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1715686",
        "RCV": [
          "RCV002304608"
        ],
        "variationId": 1715686
      }
    ]
  },
  "type": "amino-acid"
}