{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828916489",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 370,
          "referenceAllele": "L",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001369640.1:p.Leu370Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350694440",
          "hgvs": "NM_001382711.1:c.1109T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738567"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1488179[alleleid]",
        "alleleId": 1488179,
        "preferredName": "NM_001927.4(DES):c.1130T>C (p.Leu377Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1471108",
        "RCV": [
          "RCV001975552"
        ],
        "variationId": 1471108
      }
    ]
  },
  "type": "amino-acid"
}