{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102143",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NP_060352.1:p.Gly259Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7630474",
          "hgvs": "NM_017882.3:c.775G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=948986[alleleid]",
        "alleleId": 948986,
        "preferredName": "NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/961382",
        "RCV": [
          "RCV001235065",
          "RCV001561994",
          "RCV001375037",
          "RCV002246224",
          "RCV002563820"
        ],
        "variationId": 961382
      }
    ]
  },
  "type": "amino-acid"
}