{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499263965",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012784",
      "geneNCBI_id": 7474,
      "geneSymbol": "WNT5A",
      "hgvs": [
        "NP_003383.4:p.Cys83Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353267394",
          "hgvs": "NM_003392.7:c.248G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738536"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969555[alleleid]",
        "alleleId": 969555,
        "preferredName": "NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981471",
        "RCV": [
          "RCV001353076",
          "RCV002462889"
        ],
        "variationId": 981471
      }
    ]
  },
  "type": "amino-acid"
}