{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA115854",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 626,
          "referenceAllele": "Q",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NP_000410.2:p.Gln626His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115852",
          "hgvs": "NM_000419.3:c.1878G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399801470",
          "hgvs": "NM_000419.3:c.1878G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146962"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17942[alleleid]",
        "alleleId": 17942,
        "preferredName": "NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2903",
        "RCV": [
          "RCV000003037",
          "RCV001580157"
        ],
        "variationId": 2903
      }
    ]
  },
  "type": "amino-acid"
}