{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA314504",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 241,
          "referenceAllele": "R",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NP_005661.1:p.Arg241Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA314503",
          "hgvs": "NM_005670.4:c.722G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171290"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201926[alleleid]",
        "alleleId": 201926,
        "preferredName": "NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205435",
        "RCV": [
          "RCV000187396",
          "RCV000720116",
          "RCV000727316",
          "RCV001084331",
          "RCV001331453",
          "RCV002317095",
          "RCV003967473"
        ],
        "variationId": 205435
      }
    ]
  },
  "type": "amino-acid"
}