{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826253761",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 107,
          "referenceAllele": "E",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_001188330.1:p.Glu107Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7297400",
          "hgvs": "NM_001201401.2:c.319G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3174828[alleleid]",
        "alleleId": 3174828,
        "preferredName": "NM_000153.4(GALC):c.388G>C (p.Glu130Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3015852",
        "RCV": [
          "RCV003873939"
        ],
        "variationId": 3015852
      }
    ]
  },
  "type": "amino-acid"
}