{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057547111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 393,
          "referenceAllele": "N",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001918.3:p.Asn393Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2125252",
          "hgvs": "NM_001927.4:c.1178A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3882075[alleleid]",
        "alleleId": 3882075,
        "preferredName": "NM_001927.4(DES):c.1178A>G (p.Asn393Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3765910",
        "RCV": [
          "RCV005233626"
        ],
        "variationId": 3765910
      }
    ]
  },
  "type": "amino-acid"
}