{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891847698",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 949,
          "referenceAllele": "R",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_000457.1:p.Arg949Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA161955790",
          "hgvs": "NM_000466.3:c.2845C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147008"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=561815[alleleid]",
        "alleleId": 561815,
        "preferredName": "NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/580960",
        "RCV": [
          "RCV000704649",
          "RCV001580539",
          "RCV003472246"
        ],
        "variationId": 580960
      }
    ]
  },
  "type": "amino-acid"
}