{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA267593",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 157,
          "referenceAllele": "S",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "NP_001900.1:p.Ser157Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA267592",
          "hgvs": "NM_001909.5:c.470C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167792"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106597[alleleid]",
        "alleleId": 106597,
        "preferredName": "NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100732",
        "RCV": [
          "RCV000087098",
          "RCV000804177",
          "RCV002336243",
          "RCV003330432"
        ],
        "variationId": 100732
      }
    ]
  },
  "type": "amino-acid"
}