{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580313484",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 940,
          "referenceAllele": "D",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016400",
      "geneNCBI_id": 114548,
      "geneSymbol": "NLRP3",
      "hgvs": [
        "NP_004886.3:p.Asp940Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA40712655",
          "hgvs": "NM_004895.5:c.2818G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686871[alleleid]",
        "alleleId": 1686871,
        "preferredName": "NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694436",
        "RCV": [
          "RCV002262158",
          "RCV002488658",
          "RCV003594175"
        ],
        "variationId": 1694436
      }
    ]
  },
  "type": "amino-acid"
}