{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112955",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "R",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_000143.2:p.Arg702Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274304",
          "hgvs": "NM_000152.5:c.2104C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187016[alleleid]",
        "alleleId": 187016,
        "preferredName": "NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189040",
        "RCV": [
          "RCV000169431",
          "RCV001090261"
        ],
        "variationId": 189040
      }
    ]
  },
  "type": "amino-acid"
}