{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830248764",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 213,
          "referenceAllele": "K",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_612114.2:p.Lys213Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413720749",
          "hgvs": "NM_138270.5:c.637A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26772[alleleid]",
        "alleleId": 26772,
        "preferredName": "NM_000489.6(ATRX):c.751A>G (p.Lys251Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11733",
        "RCV": [
          "RCV000012499"
        ],
        "variationId": 11733
      }
    ]
  },
  "type": "amino-acid"
}