{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826538293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 190,
          "referenceAllele": "W",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000566",
      "geneNCBI_id": 8546,
      "geneSymbol": "AP3B1",
      "hgvs": [
        "NP_001258698.1:p.Trp190Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA360190856",
          "hgvs": "NM_001271769.2:c.569G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1505997[alleleid]",
        "alleleId": 1505997,
        "preferredName": "NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1379948",
        "RCV": [
          "RCV001886132"
        ],
        "variationId": 1379948
      }
    ]
  },
  "type": "amino-acid"
}