{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099430",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "R",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NP_000511.2:p.Arg504Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116503",
          "hgvs": "NM_000520.6:c.1510C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147055"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18945[alleleid]",
        "alleleId": 18945,
        "preferredName": "NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3906",
        "RCV": [
          "RCV000004112",
          "RCV000169084",
          "RCV001000970",
          "RCV001508769"
        ],
        "variationId": 3906
      }
    ]
  },
  "type": "amino-acid"
}