{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100485",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 148,
          "referenceAllele": "S",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Ser148Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413929891",
          "hgvs": "NM_000169.3:c.444T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413929898",
          "hgvs": "NM_000169.3:c.444T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413929924",
          "hgvs": "NM_000169.3:c.442A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621667[alleleid]",
        "alleleId": 621667,
        "preferredName": "NM_000169.3(GLA):c.444T>G (p.Ser148Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/633251",
        "RCV": [
          "RCV000781430",
          "RCV003372841"
        ],
        "variationId": 633251
      }
    ]
  },
  "type": "amino-acid"
}