{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916047618",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 814,
          "referenceAllele": "R",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NP_001356185.1:p.Arg814Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312397",
          "hgvs": "NM_001369256.1:c.2440C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=199992[alleleid]",
        "alleleId": 199992,
        "preferredName": "NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203650",
        "RCV": [
          "RCV000185819"
        ],
        "variationId": 203650
      }
    ]
  },
  "type": "amino-acid"
}