{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826302202",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 493,
          "referenceAllele": "R",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016398",
      "geneNCBI_id": 114876,
      "geneSymbol": "OSBPL1A",
      "hgvs": [
        "NP_001229437.1:p.Arg493Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402074314",
          "hgvs": "NM_001242508.1:c.1478G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3374198[alleleid]",
        "alleleId": 3374198,
        "preferredName": "NM_080597.4(OSBPL1A):c.2624G>A (p.Arg875Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3207047",
        "RCV": [
          "RCV004504411"
        ],
        "variationId": 3207047
      }
    ]
  },
  "type": "amino-acid"
}