{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 437,
          "referenceAllele": "L",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NP_004950.2:p.Leu437Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122718",
          "hgvs": "NM_004959.5:c.1310T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170629"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27842[alleleid]",
        "alleleId": 27842,
        "preferredName": "NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12803",
        "RCV": [
          "RCV000013647"
        ],
        "variationId": 12803
      }
    ]
  },
  "type": "amino-acid"
}