{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112844",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 224,
          "referenceAllele": "R",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_000143.2:p.Arg224Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274477",
          "hgvs": "NM_000152.5:c.670C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186994[alleleid]",
        "alleleId": 186994,
        "preferredName": "NM_000152.5(GAA):c.670C>T (p.Arg224Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189188",
        "RCV": [
          "RCV000169620",
          "RCV000272542"
        ],
        "variationId": 189188
      }
    ]
  },
  "type": "amino-acid"
}