{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825586808",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "K",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NP_001116241.1:p.Lys134Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3901128",
          "hgvs": "NM_001122769.3:c.401A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=309002[alleleid]",
        "alleleId": 309002,
        "preferredName": "NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/358104",
        "RCV": [
          "RCV000400678",
          "RCV001199700",
          "RCV001553635",
          "RCV001861293"
        ],
        "variationId": 358104
      }
    ]
  },
  "type": "amino-acid"
}