{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580547617",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 221,
          "referenceAllele": "P",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002520",
      "geneNCBI_id": 56474,
      "geneSymbol": "CTPS2",
      "hgvs": [
        "NP_787055.1:p.Pro221His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA327222380",
          "hgvs": "NM_175859.3:c.662C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2281022[alleleid]",
        "alleleId": 2281022,
        "preferredName": "NM_175859.3(CTPS2):c.662C>A (p.Pro221His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2297706",
        "RCV": [
          "RCV004145512"
        ],
        "variationId": 2297706
      }
    ]
  },
  "type": "amino-acid"
}