{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827604223",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 443,
          "referenceAllele": "Q",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NP_001338225.1:p.Gln443His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379768482",
          "hgvs": "NM_001351296.2:c.1329G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379768483",
          "hgvs": "NM_001351296.2:c.1329G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1062278[alleleid]",
        "alleleId": 1062278,
        "preferredName": "NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1071311",
        "RCV": [
          "RCV001383753",
          "RCV001826165",
          "RCV002499797",
          "RCV003469700"
        ],
        "variationId": 1071311
      }
    ]
  },
  "type": "amino-acid"
}