{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826816822",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "D",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004879",
      "geneNCBI_id": 3074,
      "geneSymbol": "HEXB",
      "hgvs": [
        "NP_001278933.1:p.Asp269Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA360070980",
          "hgvs": "NM_001292004.1:c.806A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164900"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857404[alleleid]",
        "alleleId": 857404,
        "preferredName": "NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869190",
        "RCV": [
          "RCV001804177"
        ],
        "variationId": 869190
      }
    ]
  },
  "type": "amino-acid"
}