{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117572",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 76,
          "referenceAllele": "R",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007974",
      "geneNCBI_id": 10002,
      "geneSymbol": "NR2E3",
      "hgvs": [
        "NP_057430.1:p.Arg76Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117571",
          "hgvs": "NM_016346.4:c.226C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175165"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20568[alleleid]",
        "alleleId": 20568,
        "preferredName": "NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5529",
        "RCV": [
          "RCV000005866",
          "RCV001048873",
          "RCV003323352",
          "RCV003887854"
        ],
        "variationId": 5529
      }
    ]
  },
  "type": "amino-acid"
}