{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499229125",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 694,
          "referenceAllele": "I",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Ile694Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353686770",
          "hgvs": "NM_000158.4:c.2081T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1042454[alleleid]",
        "alleleId": 1042454,
        "preferredName": "NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1053439",
        "RCV": [
          "RCV001361784",
          "RCV003324829",
          "RCV003462925"
        ],
        "variationId": 1053439
      }
    ]
  },
  "type": "amino-acid"
}