{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827937246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 117,
          "referenceAllele": "A",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NP_001341730.1:p.Ala117Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16609264",
          "hgvs": "NM_001354801.1:c.350C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636186"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=380266[alleleid]",
        "alleleId": 380266,
        "preferredName": "NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/393447",
        "RCV": [
          "RCV000445420",
          "RCV001584122",
          "RCV004539920"
        ],
        "variationId": 393447
      }
    ]
  },
  "type": "amino-acid"
}