{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826949816",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 468,
          "referenceAllele": "L",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011609",
      "geneNCBI_id": 6916,
      "geneSymbol": "TBXAS1",
      "hgvs": [
        "NP_001300957.1:p.Leu468Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121723",
          "hgvs": "NM_001314028.4:c.1403T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26925[alleleid]",
        "alleleId": 26925,
        "preferredName": "NM_001061.7(TBXAS1):c.1460T>C (p.Leu487Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11886",
        "RCV": [
          "RCV000012661"
        ],
        "variationId": 11886
      }
    ]
  },
  "type": "amino-acid"
}