{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107761",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 274,
          "referenceAllele": "P",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NP_000278.3:p.Pro274Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA210642",
          "hgvs": "NM_000287.4:c.821C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214063[alleleid]",
        "alleleId": 214063,
        "preferredName": "NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217424",
        "RCV": [
          "RCV000201297",
          "RCV000666553",
          "RCV000622824",
          "RCV001276623",
          "RCV000735222",
          "RCV001193476",
          "RCV001808558",
          "RCV002243878"
        ],
        "variationId": 217424
      }
    ]
  },
  "type": "amino-acid"
}