{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825207058",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 332,
          "referenceAllele": "N",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NP_000511.2:p.Asn332Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393062002",
          "hgvs": "NM_000520.6:c.995A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147055"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1441980[alleleid]",
        "alleleId": 1441980,
        "preferredName": "NM_000520.6(HEXA):c.995A>T (p.Asn332Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1482615",
        "RCV": [
          "RCV001995718"
        ],
        "variationId": 1482615
      }
    ]
  },
  "type": "amino-acid"
}