{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830417937",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "S",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NP_899632.2:p.Ser547Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1495048",
          "hgvs": "NM_183395.3:c.1639A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710785"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515874[alleleid]",
        "alleleId": 515874,
        "preferredName": "NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/536887",
        "RCV": [
          "RCV000645590",
          "RCV000825794",
          "RCV000768276",
          "RCV001088695",
          "RCV002282291",
          "RCV003224363",
          "RCV004544870"
        ],
        "variationId": 536887
      }
    ]
  },
  "type": "amino-acid"
}