{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658803615",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1275,
          "referenceAllele": "R",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_000457.1:p.Arg1275Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4340717",
          "hgvs": "NM_000466.3:c.3824G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147008"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493931[alleleid]",
        "alleleId": 493931,
        "preferredName": "NM_000466.3(PEX1):c.3824G>A (p.Arg1275Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/502507",
        "RCV": [
          "RCV000595661",
          "RCV002532668"
        ],
        "variationId": 502507
      }
    ]
  },
  "type": "amino-acid"
}