{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826947414",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "M",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NP_001300844.1:p.Met595Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1754480",
          "hgvs": "NM_001313915.2:c.1784T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166952"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=287519[alleleid]",
        "alleleId": 287519,
        "preferredName": "NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/337404",
        "RCV": [
          "RCV000278324",
          "RCV001850815",
          "RCV003258775"
        ],
        "variationId": 337404
      }
    ]
  },
  "type": "amino-acid"
}