{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825207025",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NP_000511.2:p.Gly321Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393062195",
          "hgvs": "NM_000520.6:c.962G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147055"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980191[alleleid]",
        "alleleId": 980191,
        "preferredName": "NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/992197",
        "RCV": [
          "RCV001280549",
          "RCV001871610"
        ],
        "variationId": 992197
      }
    ]
  },
  "type": "amino-acid"
}