{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828483416",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029255",
      "geneNCBI_id": 54532,
      "geneSymbol": "USP53",
      "hgvs": [
        "NP_001358325.1:p.Gly617Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3059256",
          "hgvs": "NM_001371396.1:c.1849G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1862631[alleleid]",
        "alleleId": 1862631,
        "preferredName": "NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1805620",
        "RCV": [
          "RCV002472038",
          "RCV002571477"
        ],
        "variationId": 1805620
      }
    ]
  },
  "type": "amino-acid"
}