{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827026004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 474,
          "referenceAllele": "Y",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NP_001305895.1:p.Tyr474His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116653",
          "hgvs": "NM_001318966.2:c.1420T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19161[alleleid]",
        "alleleId": 19161,
        "preferredName": "NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4122",
        "RCV": [
          "RCV003221398"
        ],
        "variationId": 4122
      }
    ]
  },
  "type": "amino-acid"
}