{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826687834",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NP_001271219.1:p.Gly461Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA367637551",
          "hgvs": "NM_001284290.2:c.1382G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163011"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868010[alleleid]",
        "alleleId": 1868010,
        "preferredName": "NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136543",
        "RCV": [
          "RCV003060116"
        ],
        "variationId": 2136543
      }
    ]
  },
  "type": "amino-acid"
}