{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645408719",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1283,
          "referenceAllele": "QRDQLRADISIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESFQNPKRRKNQSGTMFRPGQKVTLA",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_000457.1:p.Gln1192Ter"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147008"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357586[alleleid]",
        "alleleId": 357586,
        "preferredName": "NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371698",
        "RCV": [
          "RCV000409527",
          "RCV000411053",
          "RCV000598875",
          "RCV001865276",
          "RCV003475977",
          "RCV003335310"
        ],
        "variationId": 371698
      }
    ]
  },
  "type": "amino-acid"
}