{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830276309",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 665,
          "referenceAllele": "R",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022947",
      "geneNCBI_id": 199713,
      "geneSymbol": "NLRP7",
      "hgvs": [
        "NP_631915.2:p.Arg665Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115078",
          "hgvs": "NM_139176.3:c.1994G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181532"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16626[alleleid]",
        "alleleId": 16626,
        "preferredName": "NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1587",
        "RCV": [
          "RCV000001654"
        ],
        "variationId": 1587
      }
    ]
  },
  "type": "amino-acid"
}