{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3079399931",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 189,
          "referenceAllele": "E",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "NP_005421.1:p.Glu189Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384632232",
          "hgvs": "NM_005430.4:c.565G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171062"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4888643[alleleid]",
        "alleleId": 4888643,
        "preferredName": "NM_005430.4(WNT1):c.565G>C (p.Glu189Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4781011",
        "RCV": [
          "RCV006580371"
        ],
        "variationId": 4781011
      }
    ]
  },
  "type": "amino-acid"
}