{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915961260",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 498,
          "referenceAllele": "E",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Glu498Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2499637",
          "hgvs": "NM_000158.4:c.1492G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=538363[alleleid]",
        "alleleId": 538363,
        "preferredName": "NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/548007",
        "RCV": [
          "RCV000660623",
          "RCV000728026",
          "RCV000764514",
          "RCV000779417",
          "RCV003117462",
          "RCV004533452",
          "RCV001240088"
        ],
        "variationId": 548007
      }
    ]
  },
  "type": "amino-acid"
}