{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830418169",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "T",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012437",
      "geneNCBI_id": 7296,
      "geneSymbol": "TXNRD1",
      "hgvs": [
        "NP_877419.1:p.Thr319Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6756278",
          "hgvs": "NM_182742.3:c.955A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184617"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2206247[alleleid]",
        "alleleId": 2206247,
        "preferredName": "NM_001093771.3(TXNRD1):c.1405A>G (p.Thr469Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2217626",
        "RCV": [
          "RCV004078598"
        ],
        "variationId": 2217626
      }
    ]
  },
  "type": "amino-acid"
}