{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915964868",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 746,
          "referenceAllele": "W",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_001073272.1:p.Trp746Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401324768",
          "hgvs": "NM_001079804.3:c.2236T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401324769",
          "hgvs": "NM_001079804.3:c.2236T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150561"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490717[alleleid]",
        "alleleId": 490717,
        "preferredName": "NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499293",
        "RCV": [
          "RCV000598534",
          "RCV000726989"
        ],
        "variationId": 499293
      }
    ]
  },
  "type": "amino-acid"
}