{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA214933",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 83,
          "referenceAllele": "R",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "NP_110388.2:p.Arg83Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214932",
          "hgvs": "NM_030761.5:c.247C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178923"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21349[alleleid]",
        "alleleId": 21349,
        "preferredName": "NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6310",
        "RCV": [
          "RCV000006690"
        ],
        "variationId": 6310
      }
    ]
  },
  "type": "amino-acid"
}