{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829779517",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 746,
          "referenceAllele": "R",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "NP_055929.1:p.Arg746Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6895289",
          "hgvs": "NM_015114.3:c.2236C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174288"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3280911[alleleid]",
        "alleleId": 3280911,
        "preferredName": "NM_015114.3(ANKLE2):c.2236C>T (p.Arg746Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3121630",
        "RCV": [
          "RCV004410965"
        ],
        "variationId": 3121630
      }
    ]
  },
  "type": "amino-acid"
}