{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA247304",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "S",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NP_060352.1:p.Ser308Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247303",
          "hgvs": "NM_017882.3:c.923G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195734[alleleid]",
        "alleleId": 195734,
        "preferredName": "NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198573",
        "RCV": [
          "RCV000187108",
          "RCV000515242",
          "RCV000724552",
          "RCV001080133",
          "RCV002054140",
          "RCV002314666",
          "RCV003398902"
        ],
        "variationId": 198573
      }
    ]
  },
  "type": "amino-acid"
}