{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096545",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 292,
          "referenceAllele": "R",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "NP_004616.2:p.Arg292Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119261",
          "hgvs": "NM_004625.4:c.874C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170320"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23099[alleleid]",
        "alleleId": 23099,
        "preferredName": "NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8060",
        "RCV": [
          "RCV000008526"
        ],
        "variationId": 8060
      }
    ]
  },
  "type": "amino-acid"
}