{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825120196",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 250,
          "referenceAllele": "W",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009717",
      "geneNCBI_id": 5828,
      "geneSymbol": "PEX2",
      "hgvs": [
        "NP_000309.2:p.Trp250Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA154235",
          "hgvs": "NM_000318.3:c.748T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371556670",
          "hgvs": "NM_000318.3:c.748T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673935"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135331[alleleid]",
        "alleleId": 135331,
        "preferredName": "NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129885",
        "RCV": [
          "RCV000117903",
          "RCV000262649",
          "RCV000435678",
          "RCV001082068",
          "RCV001578657",
          "RCV001835683"
        ],
        "variationId": 129885
      }
    ]
  },
  "type": "amino-acid"
}