{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826622079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 112,
          "referenceAllele": "R",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003164",
      "geneNCBI_id": 8721,
      "geneSymbol": "EDF1",
      "hgvs": [
        "NP_001268227.1:p.Arg112Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5349492",
          "hgvs": "NM_001281298.2:c.335G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162070"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2242100[alleleid]",
        "alleleId": 2242100,
        "preferredName": "NM_003792.4(EDF1):c.398G>A (p.Arg133Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2249658",
        "RCV": [
          "RCV004109324"
        ],
        "variationId": 2249658
      }
    ]
  },
  "type": "amino-acid"
}