{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828917327",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 270,
          "referenceAllele": "A",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001369642.1:p.Ala270Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350694040",
          "hgvs": "NM_001382713.1:c.808G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738368"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1515421[alleleid]",
        "alleleId": 1515421,
        "preferredName": "NM_001927.4(DES):c.1078G>T (p.Ala360Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1517261",
        "RCV": [
          "RCV002027221",
          "RCV002486738",
          "RCV003146490"
        ],
        "variationId": 1517261
      }
    ]
  },
  "type": "amino-acid"
}