{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099623",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 313,
          "referenceAllele": "D",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Asp313Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022202",
          "hgvs": "NM_000169.3:c.937G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25777[alleleid]",
        "alleleId": 25777,
        "preferredName": "NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10738",
        "RCV": [
          "RCV000011486",
          "RCV000035314",
          "RCV000172895",
          "RCV000346926",
          "RCV000250525",
          "RCV000487818",
          "RCV000769536"
        ],
        "variationId": 10738
      }
    ]
  },
  "type": "amino-acid"
}