{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828915663",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 16,
          "referenceAllele": "R",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001369639.1:p.Arg16Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350682339",
          "hgvs": "NM_001382710.1:c.46C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739458"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1509505[alleleid]",
        "alleleId": 1509505,
        "preferredName": "NM_001927.4(DES):c.46C>A (p.Arg16Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1355754",
        "RCV": [
          "RCV001867087"
        ],
        "variationId": 1355754
      }
    ]
  },
  "type": "amino-acid"
}