{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828523482",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 11,
          "referenceAllele": "L",
          "start": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_001361423.1:p.Leu11Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342075",
          "hgvs": "NM_001374494.1:c.32T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34291[alleleid]",
        "alleleId": 34291,
        "preferredName": "NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21439",
        "RCV": [
          "RCV000020624",
          "RCV001276660",
          "RCV001781295",
          "RCV002243657",
          "RCV002513140"
        ],
        "variationId": 21439
      }
    ]
  },
  "type": "amino-acid"
}