{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645380413",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 625,
          "referenceAllele": "S",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NP_852091.1:p.Ser625Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2715852",
          "hgvs": "NM_181426.2:c.1874G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184212"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229036[alleleid]",
        "alleleId": 229036,
        "preferredName": "NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228475",
        "RCV": [
          "RCV000214679",
          "RCV000233515",
          "RCV003417772"
        ],
        "variationId": 228475
      }
    ]
  },
  "type": "amino-acid"
}