{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829596553",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 4363,
          "referenceAllele": "S",
          "start": 4362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NP_005520.4:p.Ser4363Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA669132",
          "hgvs": "NM_005529.7:c.13088C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171155"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=707091[alleleid]",
        "alleleId": 707091,
        "preferredName": "NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/790476",
        "RCV": [
          "RCV000973271",
          "RCV001101309",
          "RCV001101310",
          "RCV004535973"
        ],
        "variationId": 790476
      }
    ]
  },
  "type": "amino-acid"
}