{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499229117",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "P",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Pro508Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2499633",
          "hgvs": "NM_000158.4:c.1522C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1092845[alleleid]",
        "alleleId": 1092845,
        "preferredName": "NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1114846",
        "RCV": [
          "RCV001442706",
          "RCV001557552"
        ],
        "variationId": 1114846
      }
    ]
  },
  "type": "amino-acid"
}