{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2742002041",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030912",
      "geneNCBI_id": 117166,
      "geneSymbol": "WFIKKN1",
      "hgvs": [
        "NP_444514.1:p.Gly453Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7781626",
          "hgvs": "NM_053284.3:c.1357G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180533"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2686845[alleleid]",
        "alleleId": 2686845,
        "preferredName": "NM_053284.3(WFIKKN1):c.1357G>A (p.Gly453Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2523187",
        "RCV": [
          "RCV004302024"
        ],
        "variationId": 2523187
      }
    ]
  },
  "type": "amino-acid"
}