{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829575163",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 432,
          "referenceAllele": "R",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NP_005041.1:p.Arg432Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7266871",
          "hgvs": "NM_005050.4:c.1295G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1690917[alleleid]",
        "alleleId": 1690917,
        "preferredName": "NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698540",
        "RCV": [
          "RCV002271817"
        ],
        "variationId": 1698540
      }
    ]
  },
  "type": "amino-acid"
}