{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829748758",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "R",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NP_054643.2:p.Arg253Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4089979",
          "hgvs": "NM_013988.3:c.757C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173389"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413736[alleleid]",
        "alleleId": 413736,
        "preferredName": "NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425402",
        "RCV": [
          "RCV000487928",
          "RCV001154406"
        ],
        "variationId": 425402
      }
    ]
  },
  "type": "amino-acid"
}