{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826316120",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 703,
          "referenceAllele": "Q",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NP_001230062.1:p.Gln703Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1495112",
          "hgvs": "NM_001243133.2:c.2107C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=249858[alleleid]",
        "alleleId": 249858,
        "preferredName": "NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/259561",
        "RCV": [
          "RCV000246002",
          "RCV000282807",
          "RCV000340224",
          "RCV000394881",
          "RCV000531876",
          "RCV000416176",
          "RCV002294151",
          "RCV002262891"
        ],
        "variationId": 259561
      }
    ]
  },
  "type": "amino-acid"
}