{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645468378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 263,
          "referenceAllele": "T",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NP_000511.2:p.Thr263Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044205",
          "hgvs": "NM_000520.6:c.788C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147055"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362124[alleleid]",
        "alleleId": 362124,
        "preferredName": "NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375356",
        "RCV": [
          "RCV000416422",
          "RCV003323529"
        ],
        "variationId": 375356
      }
    ]
  },
  "type": "amino-acid"
}