{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA254106",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "E",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NP_001008212.1:p.Glu478Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254105",
          "hgvs": "NM_001008211.1:c.1433A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148445"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22141[alleleid]",
        "alleleId": 22141,
        "preferredName": "NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7102",
        "RCV": [
          "RCV000007520"
        ],
        "variationId": 7102
      }
    ]
  },
  "type": "amino-acid"
}