{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828058495",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 207,
          "referenceAllele": "E",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NP_001346986.1:p.Glu207Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366190202",
          "hgvs": "NM_001360057.2:c.619G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625485"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2904874[alleleid]",
        "alleleId": 2904874,
        "preferredName": "NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734962",
        "RCV": [
          "RCV003583622"
        ],
        "variationId": 2734962
      }
    ]
  },
  "type": "amino-acid"
}