{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827733949",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23,
          "referenceAllele": "R",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011805",
      "geneNCBI_id": 7074,
      "geneSymbol": "TIAM1",
      "hgvs": [
        "NP_001340615.1:p.Arg23Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9998756",
          "hgvs": "NM_001353686.2:c.67C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618232"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1517741[alleleid]",
        "alleleId": 1517741,
        "preferredName": "NM_001353694.2(TIAM1):c.67C>T (p.Arg23Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1526338",
        "RCV": [
          "RCV002052356",
          "RCV002264838"
        ],
        "variationId": 1526338
      }
    ]
  },
  "type": "amino-acid"
}