{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825290603",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 322,
          "referenceAllele": "E",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NP_001008214.1:p.Glu322Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203267440",
          "hgvs": "NM_001008213.1:c.964G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148447"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=692808[alleleid]",
        "alleleId": 692808,
        "preferredName": "NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/703420",
        "RCV": [
          "RCV000873017",
          "RCV001085799"
        ],
        "variationId": 703420
      }
    ]
  },
  "type": "amino-acid"
}