{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826253762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 107,
          "referenceAllele": "E",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_001188330.1:p.Glu107Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA273994",
          "hgvs": "NM_001201401.2:c.319G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186923[alleleid]",
        "alleleId": 186923,
        "preferredName": "NM_000153.4(GALC):c.388G>A (p.Glu130Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188817",
        "RCV": [
          "RCV000169155",
          "RCV002298498"
        ],
        "variationId": 188817
      }
    ]
  },
  "type": "amino-acid"
}