{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826879043",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006155",
      "geneNCBI_id": 3689,
      "geneSymbol": "ITGB2",
      "hgvs": [
        "NP_001290167.1:p.Gly215Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120468",
          "hgvs": "NM_001303238.2:c.643G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165932"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24508[alleleid]",
        "alleleId": 24508,
        "preferredName": "NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9469",
        "RCV": [
          "RCV000705990",
          "RCV001266603",
          "RCV002254903"
        ],
        "variationId": 9469
      }
    ]
  },
  "type": "amino-acid"
}