{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829331829",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "referenceAllele": "R",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NP_001578.2:p.Arg337Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA266138",
          "hgvs": "NM_001587.4:c.1009C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167498"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79587[alleleid]",
        "alleleId": 79587,
        "preferredName": "NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68695",
        "RCV": [
          "RCV000059576",
          "RCV003488373"
        ],
        "variationId": 68695
      }
    ]
  },
  "type": "amino-acid"
}