{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499230766",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 939,
          "referenceAllele": "P",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NP_000278.3:p.Pro939Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3810890",
          "hgvs": "NM_000287.4:c.2816C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1027207[alleleid]",
        "alleleId": 1027207,
        "preferredName": "NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1035564",
        "RCV": [
          "RCV001338448",
          "RCV001830403"
        ],
        "variationId": 1035564
      }
    ]
  },
  "type": "amino-acid"
}