{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916031606",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 360,
          "referenceAllele": "D",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Asp360Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA298135",
          "hgvs": "NM_001351834.2:c.1080T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382532342",
          "hgvs": "NM_001351834.2:c.1080T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180396[alleleid]",
        "alleleId": 180396,
        "preferredName": "NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181917",
        "RCV": [
          "RCV000159682",
          "RCV000565732",
          "RCV000696558",
          "RCV002243828"
        ],
        "variationId": 181917
      }
    ]
  },
  "type": "amino-acid"
}