{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828508395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 419,
          "referenceAllele": "R",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NP_001361289.1:p.Arg419Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2683001",
          "hgvs": "NM_001374360.1:c.1255C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708244"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790355[alleleid]",
        "alleleId": 790355,
        "preferredName": "NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802018",
        "RCV": [
          "RCV000987349",
          "RCV002550600"
        ],
        "variationId": 802018
      }
    ]
  },
  "type": "amino-acid"
}