{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913195361",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 592,
          "referenceAllele": "E",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NP_000278.3:p.Glu592Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3811222",
          "hgvs": "NM_000287.4:c.1774G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587441[alleleid]",
        "alleleId": 587441,
        "preferredName": "NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596380",
        "RCV": [
          "RCV000732195",
          "RCV001245942",
          "RCV001830618",
          "RCV003338774"
        ],
        "variationId": 596380
      }
    ]
  },
  "type": "amino-acid"
}