{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826254310",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "referenceAllele": "R",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_001188331.1:p.Arg43Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390753440",
          "hgvs": "NM_001201402.2:c.127C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3133652[alleleid]",
        "alleleId": 3133652,
        "preferredName": "NM_000153.4(GALC):c.205C>G (p.Arg69Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2976295",
        "RCV": [
          "RCV003836445"
        ],
        "variationId": 2976295
      }
    ]
  },
  "type": "amino-acid"
}