{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828523568",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 86,
          "referenceAllele": "V",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_001361423.1:p.Val86Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8291863",
          "hgvs": "NM_001374494.1:c.256G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1381317[alleleid]",
        "alleleId": 1381317,
        "preferredName": "NM_004937.3(CTNS):c.697G>A (p.Val233Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1386952",
        "RCV": [
          "RCV002051971",
          "RCV002552954",
          "RCV002552955"
        ],
        "variationId": 1386952
      }
    ]
  },
  "type": "amino-acid"
}