{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827689978",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 66,
          "referenceAllele": "S",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_001339850.1:p.Ser66Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294900009",
          "hgvs": "NM_001352921.3:c.197C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625699"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1969488[alleleid]",
        "alleleId": 1969488,
        "preferredName": "NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1910563",
        "RCV": [
          "RCV002593361",
          "RCV004526936"
        ],
        "variationId": 1910563
      }
    ]
  },
  "type": "amino-acid"
}