{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827629922",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 18,
          "referenceAllele": "D",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338764.1:p.Asp18His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA382519240",
          "hgvs": "NM_001351835.2:c.52G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660155"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1890511[alleleid]",
        "alleleId": 1890511,
        "preferredName": "NM_000051.4(ATM):c.52G>C (p.Asp18His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2159504",
        "RCV": [
          "RCV003085967"
        ],
        "variationId": 2159504
      }
    ]
  },
  "type": "amino-acid"
}