{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA294152",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Gly844Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294150",
          "hgvs": "NM_000051.4:c.2531G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151228[alleleid]",
        "alleleId": 151228,
        "preferredName": "NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141514",
        "RCV": [
          "RCV000130079",
          "RCV000168121",
          "RCV000211983",
          "RCV002288634",
          "RCV003226209",
          "RCV004551252"
        ],
        "variationId": 141514
      }
    ]
  },
  "type": "amino-acid"
}