{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658809271",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "R",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "NP_653288.1:p.Arg352Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9639530",
          "hgvs": "NM_144687.4:c.1054C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181721"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514302[alleleid]",
        "alleleId": 514302,
        "preferredName": "NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523654",
        "RCV": [
          "RCV000627081",
          "RCV001311905",
          "RCV002263840"
        ],
        "variationId": 523654
      }
    ]
  },
  "type": "amino-acid"
}