{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA275384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 386,
          "referenceAllele": "Q",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Gln386Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021426",
          "hgvs": "NM_000169.3:c.1157A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195561[alleleid]",
        "alleleId": 195561,
        "preferredName": "NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198400",
        "RCV": [
          "RCV000179728",
          "RCV000792067"
        ],
        "variationId": 198400
      }
    ]
  },
  "type": "amino-acid"
}