{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093914",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 311,
          "referenceAllele": "R",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007974",
      "geneNCBI_id": 10002,
      "geneSymbol": "NR2E3",
      "hgvs": [
        "NP_055064.1:p.Arg311Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117575",
          "hgvs": "NM_014249.4:c.932G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173554"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20571[alleleid]",
        "alleleId": 20571,
        "preferredName": "NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5532",
        "RCV": [
          "RCV000005869",
          "RCV000005870",
          "RCV000171240",
          "RCV000393548",
          "RCV000668086",
          "RCV000787633",
          "RCV001074891",
          "RCV001095701",
          "RCV001257807",
          "RCV001374877"
        ],
        "variationId": 5532
      }
    ]
  },
  "type": "amino-acid"
}