{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826646714",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 515,
          "referenceAllele": "W",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NP_001269376.1:p.Trp515Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9745324",
          "hgvs": "NM_001282447.3:c.1543T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA9745325",
          "hgvs": "NM_001282447.3:c.1543T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162414"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=716947[alleleid]",
        "alleleId": 716947,
        "preferredName": "NM_025220.5(ADAM33):c.1543T>C (p.Trp515Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/785649",
        "RCV": [
          "RCV000967546"
        ],
        "variationId": 785649
      }
    ]
  },
  "type": "amino-acid"
}