{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825462058",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 594,
          "referenceAllele": "R",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_001073271.1:p.Arg594Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8815476",
          "hgvs": "NM_001079803.3:c.1781G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150560"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273598[alleleid]",
        "alleleId": 273598,
        "preferredName": "NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289361",
        "RCV": [
          "RCV000375289",
          "RCV001248974"
        ],
        "variationId": 289361
      }
    ]
  },
  "type": "amino-acid"
}