{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645295041",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 566,
          "referenceAllele": "D",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NP_004827.4:p.Asp566Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1754624",
          "hgvs": "NM_004836.7:c.1697A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170520"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=288287[alleleid]",
        "alleleId": 288287,
        "preferredName": "NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/337412",
        "RCV": [
          "RCV000311224",
          "RCV000423642",
          "RCV000664080",
          "RCV001821019",
          "RCV003922466",
          "RCV002278521"
        ],
        "variationId": 337412
      }
    ]
  },
  "type": "amino-acid"
}