{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827937123",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 42,
          "referenceAllele": "A",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NP_001341730.1:p.Ala42Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA213717",
          "hgvs": "NM_001354801.1:c.125C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636186"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44841[alleleid]",
        "alleleId": 44841,
        "preferredName": "NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36177",
        "RCV": [
          "RCV000029840",
          "RCV001642240",
          "RCV003318495",
          "RCV002444444"
        ],
        "variationId": 36177
      }
    ]
  },
  "type": "amino-acid"
}