{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828315384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 638,
          "referenceAllele": "R",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NP_001356186.1:p.Arg638Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312394",
          "hgvs": "NM_001369257.1:c.1913G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707150"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=199991[alleleid]",
        "alleleId": 199991,
        "preferredName": "NM_001875.5(CPS1):c.1913G>C (p.Arg638Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203649",
        "RCV": [
          "RCV000185818"
        ],
        "variationId": 203649
      }
    ]
  },
  "type": "amino-acid"
}