{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499226995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 262,
          "referenceAllele": "S",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NP_000024.2:p.Ser262Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415099930",
          "hgvs": "NM_000033.4:c.785C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065201[alleleid]",
        "alleleId": 1065201,
        "preferredName": "NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075691",
        "RCV": [
          "RCV001389361",
          "RCV002413919",
          "RCV003136059"
        ],
        "variationId": 1075691
      }
    ]
  },
  "type": "amino-acid"
}