{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA259351",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 89,
          "referenceAllele": "Y",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NP_000146.2:p.Tyr89Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259350",
          "hgvs": "NM_000155.4:c.265T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146705"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36477[alleleid]",
        "alleleId": 36477,
        "preferredName": "NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25143",
        "RCV": [
          "RCV000482282",
          "RCV003330397",
          "RCV003485523"
        ],
        "variationId": 25143
      }
    ]
  },
  "type": "amino-acid"
}