{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827341254",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 399,
          "referenceAllele": "R",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018986",
      "geneNCBI_id": 57704,
      "geneSymbol": "GBA2",
      "hgvs": [
        "NP_001317589.1:p.Arg399Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5050485",
          "hgvs": "NM_001330660.2:c.1196G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624513"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240624[alleleid]",
        "alleleId": 240624,
        "preferredName": "NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241327",
        "RCV": [
          "RCV000231814",
          "RCV001084099",
          "RCV001848007"
        ],
        "variationId": 241327
      }
    ]
  },
  "type": "amino-acid"
}