{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645484841",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 39,
          "referenceAllele": "S",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_004928.2:p.Ser39Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8291557",
          "hgvs": "NM_004937.3:c.116C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338047[alleleid]",
        "alleleId": 338047,
        "preferredName": "NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/322836",
        "RCV": [
          "RCV000325694",
          "RCV000382522",
          "RCV001271645",
          "RCV001532291",
          "RCV002265730",
          "RCV002521102",
          "RCV003910226"
        ],
        "variationId": 322836
      }
    ]
  },
  "type": "amino-acid"
}