{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573061607",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "M",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Met495Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353684841",
          "hgvs": "NM_000158.4:c.1484T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1332594[alleleid]",
        "alleleId": 1332594,
        "preferredName": "NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341388",
        "RCV": [
          "RCV001829302",
          "RCV002489894",
          "RCV003772351",
          "RCV003132541"
        ],
        "variationId": 1341388
      }
    ]
  },
  "type": "amino-acid"
}