{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825462072",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 599,
          "referenceAllele": "S",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_001073271.1:p.Ser599Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8815479",
          "hgvs": "NM_001079803.3:c.1796C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150560"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548800[alleleid]",
        "alleleId": 548800,
        "preferredName": "NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551558",
        "RCV": [
          "RCV000666648",
          "RCV001784239"
        ],
        "variationId": 551558
      }
    ]
  },
  "type": "amino-acid"
}