{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825463922",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 108,
          "referenceAllele": "C",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_001073272.1:p.Cys108Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401360744",
          "hgvs": "NM_001079804.3:c.323G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2695227063",
          "hgvs": "NM_001079804.3:c.323_324delinsAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150561"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835879[alleleid]",
        "alleleId": 2835879,
        "preferredName": "NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675760",
        "RCV": [
          "RCV003468226"
        ],
        "variationId": 2675760
      }
    ]
  },
  "type": "amino-acid"
}