{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112508",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "R",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "NP_003898.2:p.Arg113Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2726376",
          "hgvs": "NM_003907.3:c.337C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169663"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679861[alleleid]",
        "alleleId": 679861,
        "preferredName": "NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692118",
        "RCV": [
          "RCV000853414",
          "RCV001377730"
        ],
        "variationId": 692118
      }
    ]
  },
  "type": "amino-acid"
}