{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830249541",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1055,
          "referenceAllele": "R",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_612114.2:p.Arg1055Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413706974",
          "hgvs": "NM_138270.5:c.3164G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1795358[alleleid]",
        "alleleId": 1795358,
        "preferredName": "NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1729683",
        "RCV": [
          "RCV002325041",
          "RCV003624476"
        ],
        "variationId": 1729683
      }
    ]
  },
  "type": "amino-acid"
}