{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092227",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 44,
          "referenceAllele": "H",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NP_000145.1:p.His44Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401109400",
          "hgvs": "NM_000154.2:c.130C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146704"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548746[alleleid]",
        "alleleId": 548746,
        "preferredName": "NM_000154.2(GALK1):c.130C>T (p.His44Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555981",
        "RCV": [
          "RCV000671906"
        ],
        "variationId": 555981
      }
    ]
  },
  "type": "amino-acid"
}