{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830113247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014374",
      "geneNCBI_id": 22861,
      "geneSymbol": "NLRP1",
      "hgvs": [
        "NP_127499.1:p.Gly106Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8327606",
          "hgvs": "NM_033006.4:c.316G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397390231",
          "hgvs": "NM_033006.4:c.316G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179979"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=704238[alleleid]",
        "alleleId": 704238,
        "preferredName": "NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/770795",
        "RCV": [
          "RCV000949999",
          "RCV002502919"
        ],
        "variationId": 770795
      }
    ]
  },
  "type": "amino-acid"
}