{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826820019",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 52,
          "referenceAllele": "S",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017075",
      "geneNCBI_id": 23118,
      "geneSymbol": "TAB2",
      "hgvs": [
        "NP_001278964.1:p.Ser52Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365993159",
          "hgvs": "NM_001292035.3:c.155C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164920"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2421783[alleleid]",
        "alleleId": 2421783,
        "preferredName": "NM_001292034.3(TAB2):c.251C>T (p.Ser84Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2446657",
        "RCV": [
          "RCV003159487"
        ],
        "variationId": 2446657
      }
    ]
  },
  "type": "amino-acid"
}