{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826467644",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 100,
          "referenceAllele": "Y",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NP_001245261.1:p.Tyr100Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259457",
          "hgvs": "NM_001258332.2:c.299A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160273"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36566[alleleid]",
        "alleleId": 36566,
        "preferredName": "NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25232",
        "RCV": [
          "RCV000022168",
          "RCV001826497"
        ],
        "variationId": 25232
      }
    ]
  },
  "type": "amino-acid"
}