{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645491139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 205,
          "referenceAllele": "P",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Pro205Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10606043",
          "hgvs": "NM_000169.3:c.614C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272545[alleleid]",
        "alleleId": 272545,
        "preferredName": "NM_000169.3(GLA):c.614C>T (p.Pro205Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288308",
        "RCV": [
          "RCV000324526",
          "RCV000726143"
        ],
        "variationId": 288308
      }
    ]
  },
  "type": "amino-acid"
}