{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645449957",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NP_061764.2:p.Ala266Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4599354",
          "hgvs": "NM_018941.4:c.796G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176482"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407357[alleleid]",
        "alleleId": 407357,
        "preferredName": "NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424331",
        "RCV": [
          "RCV000479521",
          "RCV001273356",
          "RCV001851272",
          "RCV003278837"
        ],
        "variationId": 424331
      }
    ]
  },
  "type": "amino-acid"
}