{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826909747",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 609,
          "referenceAllele": "R",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NP_001293019.1:p.Arg609Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA240165",
          "hgvs": "NM_001306090.2:c.1826G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191445[alleleid]",
        "alleleId": 191445,
        "preferredName": "NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194282",
        "RCV": [
          "RCV000174617",
          "RCV000268280",
          "RCV000724535",
          "RCV001080715",
          "RCV002516635",
          "RCV003907562"
        ],
        "variationId": 194282
      }
    ]
  },
  "type": "amino-acid"
}