{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA334288",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1099,
          "referenceAllele": "D",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Asp1099Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334286",
          "hgvs": "NM_000051.4:c.3295G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186144[alleleid]",
        "alleleId": 186144,
        "preferredName": "NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188196",
        "RCV": [
          "RCV000168114",
          "RCV000214286",
          "RCV000590021",
          "RCV001354999",
          "RCV001731417",
          "RCV003462257"
        ],
        "variationId": 188196
      }
    ]
  },
  "type": "amino-acid"
}