{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825052717",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 161,
          "referenceAllele": "S",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NP_000077.1:p.Ser161Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279784669",
          "hgvs": "NM_000086.2:c.482C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146638"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1392525[alleleid]",
        "alleleId": 1392525,
        "preferredName": "NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1402913",
        "RCV": [
          "RCV001908778"
        ],
        "variationId": 1402913
      }
    ]
  },
  "type": "amino-acid"
}