{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580324196",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003660",
      "geneNCBI_id": 9637,
      "geneSymbol": "FEZ2",
      "hgvs": [
        "NP_005093.2:p.Gly46Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346276544",
          "hgvs": "NM_005102.3:c.136G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170763"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2245287[alleleid]",
        "alleleId": 2245287,
        "preferredName": "NM_005102.3(FEZ2):c.136G>C (p.Gly46Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2249389",
        "RCV": [
          "RCV004107049"
        ],
        "variationId": 2249389
      }
    ]
  },
  "type": "amino-acid"
}