{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 178,
          "referenceAllele": "R",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NP_000511.2:p.Arg178His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116498",
          "hgvs": "NM_000520.6:c.533G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147055"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18935[alleleid]",
        "alleleId": 18935,
        "preferredName": "NM_000520.6(HEXA):c.533G>A (p.Arg178His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3896",
        "RCV": [
          "RCV000004101",
          "RCV000004100",
          "RCV000409508",
          "RCV000396083",
          "RCV001255389",
          "RCV002345228",
          "RCV003964792"
        ],
        "variationId": 3896
      }
    ]
  },
  "type": "amino-acid"
}