{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA347594",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 275,
          "referenceAllele": "Y",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "NP_001405.1:p.Tyr275Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347593",
          "hgvs": "NM_001414.3:c.824A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167347"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213928[alleleid]",
        "alleleId": 213928,
        "preferredName": "NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217281",
        "RCV": [
          "RCV000201219",
          "RCV003556247",
          "RCV002282035"
        ],
        "variationId": 217281
      }
    ]
  },
  "type": "amino-acid"
}