{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499290272",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 39,
          "referenceAllele": "N",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NP_078805.3:p.Asn39Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1303255",
          "hgvs": "NM_024529.5:c.116A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178325"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1039657[alleleid]",
        "alleleId": 1039657,
        "preferredName": "NM_024529.5(CDC73):c.116A>G (p.Asn39Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1054916",
        "RCV": [
          "RCV001363508",
          "RCV002329368"
        ],
        "variationId": 1054916
      }
    ]
  },
  "type": "amino-acid"
}