{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825137730",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 618,
          "referenceAllele": "E",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NP_000267.2:p.Glu618Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414619622",
          "hgvs": "NM_000276.4:c.1852G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146823"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1320309[alleleid]",
        "alleleId": 1320309,
        "preferredName": "NM_000276.4(OCRL):c.1852G>A (p.Glu618Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1329625",
        "RCV": [
          "RCV001799933"
        ],
        "variationId": 1329625
      }
    ]
  },
  "type": "amino-acid"
}