{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249478899",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 200,
          "referenceAllele": "P",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NP_899632.2:p.Pro200Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345555013",
          "hgvs": "NM_183395.3:c.599C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710785"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4801956[alleleid]",
        "alleleId": 4801956,
        "preferredName": "NM_001243133.2(NLRP3):c.599C>T (p.Pro200Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4691362",
        "RCV": [
          "RCV006490444"
        ],
        "variationId": 4691362
      }
    ]
  },
  "type": "amino-acid"
}