{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827604182",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 381,
          "referenceAllele": "E",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NP_001338225.1:p.Glu381Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340872",
          "hgvs": "NM_001351296.2:c.1141G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24147[alleleid]",
        "alleleId": 24147,
        "preferredName": "NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9108",
        "RCV": [
          "RCV000009678",
          "RCV001089460"
        ],
        "variationId": 9108
      }
    ]
  },
  "type": "amino-acid"
}