{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828507927",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 115,
          "referenceAllele": "K",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NP_001361288.1:p.Lys115Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA86500938",
          "hgvs": "NM_001374359.1:c.343A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708243"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1459382[alleleid]",
        "alleleId": 1459382,
        "preferredName": "NM_024996.7(GFM1):c.910A>G (p.Lys304Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1348151",
        "RCV": [
          "RCV002044178"
        ],
        "variationId": 1348151
      }
    ]
  },
  "type": "amino-acid"
}