{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA352321",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Thr41Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA029760",
          "hgvs": "NM_000169.3:c.122C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413937228",
          "hgvs": "NM_000169.3:c.121A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224124[alleleid]",
        "alleleId": 224124,
        "preferredName": "NM_000169.3(GLA):c.122C>G (p.Thr41Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222168",
        "RCV": [
          "RCV001181362",
          "RCV002363037",
          "RCV003133176"
        ],
        "variationId": 222168
      }
    ]
  },
  "type": "amino-acid"
}