{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825348184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 349,
          "referenceAllele": "F",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_001026851.2:p.Phe349Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8292023",
          "hgvs": "NM_001031681.3:c.1045T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149460"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2129685[alleleid]",
        "alleleId": 2129685,
        "preferredName": "NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2069596",
        "RCV": [
          "RCV002962300",
          "RCV003883204"
        ],
        "variationId": 2069596
      }
    ]
  },
  "type": "amino-acid"
}