{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA278464",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_001026851.2:p.Gly197Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278463",
          "hgvs": "NM_001031681.3:c.589G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397691501",
          "hgvs": "NM_001031681.3:c.589G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149460"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19490[alleleid]",
        "alleleId": 19490,
        "preferredName": "NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4451",
        "RCV": [
          "RCV000004704",
          "RCV000169004",
          "RCV000514820",
          "RCV000763395",
          "RCV001844005",
          "RCV002512766"
        ],
        "variationId": 4451
      }
    ]
  },
  "type": "amino-acid"
}