{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828523471",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_001361423.1:p.Met1Ile"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338074[alleleid]",
        "alleleId": 338074,
        "preferredName": "NM_004937.3(CTNS):c.444G>A (p.Met148Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/322840",
        "RCV": [
          "RCV000339986",
          "RCV000403908",
          "RCV000996452",
          "RCV002522939",
          "RCV002521103"
        ],
        "variationId": 322840
      }
    ]
  },
  "type": "amino-acid"
}