{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826787798",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 229,
          "referenceAllele": "R",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023752",
      "geneNCBI_id": 204219,
      "geneSymbol": "CERS3",
      "hgvs": [
        "NP_001277271.1:p.Arg229His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7758971",
          "hgvs": "NM_001290342.2:c.686G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2402753[alleleid]",
        "alleleId": 2402753,
        "preferredName": "NM_001378789.1(CERS3):c.686G>A (p.Arg229His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2429320",
        "RCV": [
          "RCV003123559"
        ],
        "variationId": 2429320
      }
    ]
  },
  "type": "amino-acid"
}