{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099394",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 215,
          "referenceAllele": "N",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Asn215Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021924",
          "hgvs": "NM_000169.3:c.644A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25769[alleleid]",
        "alleleId": 25769,
        "preferredName": "NM_000169.3(GLA):c.644A>G (p.Asn215Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10730",
        "RCV": [
          "RCV000011477",
          "RCV000157896",
          "RCV000618059",
          "RCV000844705",
          "RCV001798000"
        ],
        "variationId": 10730
      }
    ]
  },
  "type": "amino-acid"
}