{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915976581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 190,
          "referenceAllele": "N",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NP_006484.2:p.Asn190Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA313927",
          "hgvs": "NM_006493.4:c.569A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS635838"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202787[alleleid]",
        "alleleId": 202787,
        "preferredName": "NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205147",
        "RCV": [
          "RCV000187073",
          "RCV000473641",
          "RCV001275304"
        ],
        "variationId": 205147
      }
    ]
  },
  "type": "amino-acid"
}