{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916045955",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 2242,
          "referenceAllele": "R",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "NP_001352928.1:p.Arg2242Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA809986",
          "hgvs": "NM_001365999.1:c.6724C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421247[alleleid]",
        "alleleId": 421247,
        "preferredName": "NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429775",
        "RCV": [
          "RCV000493018",
          "RCV000664408"
        ],
        "variationId": 429775
      }
    ]
  },
  "type": "amino-acid"
}