{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099568",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 244,
          "referenceAllele": "D",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Asp244His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413924412",
          "hgvs": "NM_000169.3:c.730G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=553620[alleleid]",
        "alleleId": 553620,
        "preferredName": "NM_000169.3(GLA):c.730G>C (p.Asp244His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562436",
        "RCV": [
          "RCV000681910",
          "RCV002499207"
        ],
        "variationId": 562436
      }
    ]
  },
  "type": "amino-acid"
}