{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828315940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1406,
          "referenceAllele": "T",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NP_001356186.1:p.Thr1406Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA288789",
          "hgvs": "NM_001369257.1:c.4217C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707150"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134300[alleleid]",
        "alleleId": 134300,
        "preferredName": "NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128852",
        "RCV": [
          "RCV000116832",
          "RCV000274786",
          "RCV003334452",
          "RCV003334453"
        ],
        "variationId": 128852
      }
    ]
  },
  "type": "amino-acid"
}