{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916047609",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 727,
          "referenceAllele": "N",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NP_001356185.1:p.Asn727Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2086555",
          "hgvs": "NM_001369256.1:c.2181T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA350439146",
          "hgvs": "NM_001369256.1:c.2181T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264072[alleleid]",
        "alleleId": 264072,
        "preferredName": "NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280052",
        "RCV": [
          "RCV000344019",
          "RCV000667844",
          "RCV003409396",
          "RCV003469214"
        ],
        "variationId": 280052
      }
    ]
  },
  "type": "amino-acid"
}