{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826253818",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "R",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_001188330.1:p.Arg161Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145817",
          "hgvs": "NM_001201401.2:c.481C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98415[alleleid]",
        "alleleId": 98415,
        "preferredName": "NM_000153.4(GALC):c.550C>T (p.Arg184Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92506",
        "RCV": [
          "RCV000078203",
          "RCV000355494",
          "RCV001647048"
        ],
        "variationId": 92506
      }
    ]
  },
  "type": "amino-acid"
}