{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825137545",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 143,
          "referenceAllele": "S",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NP_000267.2:p.Ser143Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10512018",
          "hgvs": "NM_000276.4:c.428C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146823"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018903[alleleid]",
        "alleleId": 1018903,
        "preferredName": "NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028175",
        "RCV": [
          "RCV001329156",
          "RCV002476540",
          "RCV002546307",
          "RCV003938635",
          "RCV004035664"
        ],
        "variationId": 1028175
      }
    ]
  },
  "type": "amino-acid"
}