{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658801628",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47,
          "referenceAllele": "W",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Trp47Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413937041",
          "hgvs": "NM_000169.3:c.141G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413937045",
          "hgvs": "NM_000169.3:c.141G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=534433[alleleid]",
        "alleleId": 534433,
        "preferredName": "NM_000169.3(GLA):c.141G>C (p.Trp47Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524213",
        "RCV": [
          "RCV000627817",
          "RCV003488739"
        ],
        "variationId": 524213
      }
    ]
  },
  "type": "amino-acid"
}