{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826954056",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 513,
          "referenceAllele": "R",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NP_001303242.1:p.Arg513Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138224585",
          "hgvs": "NM_001316313.2:c.1537C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167037"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620229[alleleid]",
        "alleleId": 620229,
        "preferredName": "NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632484",
        "RCV": [
          "RCV000779505",
          "RCV001576829",
          "RCV001825519",
          "RCV002535657",
          "RCV003472310",
          "RCV004549856"
        ],
        "variationId": 632484
      }
    ]
  },
  "type": "amino-acid"
}