{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100488",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 385,
          "referenceAllele": "L",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001918.3:p.Leu385Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA217023",
          "hgvs": "NM_001927.4:c.1154T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31868[alleleid]",
        "alleleId": 31868,
        "preferredName": "NM_001927.4(DES):c.1154T>C (p.Leu385Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16829",
        "RCV": [
          "RCV000056775",
          "RCV002265562"
        ],
        "variationId": 16829
      }
    ]
  },
  "type": "amino-acid"
}