{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA238728",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 72,
          "referenceAllele": "S",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001918.3:p.Ser72Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA238726",
          "hgvs": "NM_001927.4:c.216C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA350683968",
          "hgvs": "NM_001927.4:c.214A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA350684020",
          "hgvs": "NM_001927.4:c.216C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190384[alleleid]",
        "alleleId": 190384,
        "preferredName": "NM_001927.4(DES):c.216C>A (p.Ser72Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193219",
        "RCV": [
          "RCV000463940",
          "RCV000710118",
          "RCV001706118",
          "RCV001798625",
          "RCV001330866",
          "RCV002265658",
          "RCV002426827"
        ],
        "variationId": 193219
      }
    ]
  },
  "type": "amino-acid"
}