{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916047648",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "R",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NP_001356185.1:p.Arg1100Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350436193",
          "hgvs": "NM_001369256.1:c.3298C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=541863[alleleid]",
        "alleleId": 541863,
        "preferredName": "NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551329",
        "RCV": [
          "RCV000666361",
          "RCV001756125"
        ],
        "variationId": 551329
      }
    ]
  },
  "type": "amino-acid"
}