{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645492047",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 394,
          "referenceAllele": "L",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Leu394Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10603946",
          "hgvs": "NM_000169.3:c.1181T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265915[alleleid]",
        "alleleId": 265915,
        "preferredName": "NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281678",
        "RCV": [
          "RCV000316758",
          "RCV001183037",
          "RCV002328756"
        ],
        "variationId": 281678
      }
    ]
  },
  "type": "amino-acid"
}