{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101712",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 382,
          "referenceAllele": "R",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NP_000172.2:p.Arg382His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA367644059",
          "hgvs": "NM_000181.4:c.1145G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146731"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1330937[alleleid]",
        "alleleId": 1330937,
        "preferredName": "NM_000181.4(GUSB):c.1145G>A (p.Arg382His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1339727",
        "RCV": [
          "RCV001825115"
        ],
        "variationId": 1339727
      }
    ]
  },
  "type": "amino-acid"
}