{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825395612",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 412,
          "referenceAllele": "R",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011609",
      "geneNCBI_id": 6916,
      "geneSymbol": "TBXAS1",
      "hgvs": [
        "NP_001052.3:p.Arg412Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121739",
          "hgvs": "NM_001061.7:c.1235G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636247"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26928[alleleid]",
        "alleleId": 26928,
        "preferredName": "NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11889",
        "RCV": [
          "RCV000012664",
          "RCV001571663",
          "RCV001283757"
        ],
        "variationId": 11889
      }
    ]
  },
  "type": "amino-acid"
}