{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826254126",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 492,
          "referenceAllele": "E",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_001188330.1:p.Glu492Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274999",
          "hgvs": "NM_001201401.2:c.1474G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191485[alleleid]",
        "alleleId": 191485,
        "preferredName": "NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194322",
        "RCV": [
          "RCV000174663",
          "RCV000723965"
        ],
        "variationId": 194322
      }
    ]
  },
  "type": "amino-acid"
}