{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828284410",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 115,
          "referenceAllele": "H",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NP_001355060.1:p.His115Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4035088",
          "hgvs": "NM_001368131.1:c.344A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709485"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=634669[alleleid]",
        "alleleId": 634669,
        "preferredName": "NM_005670.4(EPM2A):c.758A>T (p.His253Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/640416",
        "RCV": [
          "RCV000793437",
          "RCV002388420"
        ],
        "variationId": 640416
      }
    ]
  },
  "type": "amino-acid"
}