{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827641954",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 49,
          "referenceAllele": "R",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NP_001339230.1:p.Arg49Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA068118",
          "hgvs": "NM_001352301.2:c.146G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622657"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224574[alleleid]",
        "alleleId": 224574,
        "preferredName": "NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222882",
        "RCV": [
          "RCV000208059",
          "RCV001036279",
          "RCV001797066",
          "RCV002444837"
        ],
        "variationId": 222882
      }
    ]
  },
  "type": "amino-acid"
}