{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916033985",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 2181,
          "referenceAllele": "E",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Glu2181Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA286937",
          "hgvs": "NM_001351834.2:c.6543G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382554300",
          "hgvs": "NM_001351834.2:c.6543G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132882[alleleid]",
        "alleleId": 132882,
        "preferredName": "NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1685321[alleleid]",
        "alleleId": 1685321,
        "preferredName": "NM_000051.4(ATM):c.6543G>C (p.Glu2181Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127425",
        "RCV": [
          "RCV000115230",
          "RCV000196735",
          "RCV000212044",
          "RCV000587205",
          "RCV002225324",
          "RCV004549564",
          "RCV003492464"
        ],
        "variationId": 127425
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1692881",
        "RCV": [
          "RCV002259276"
        ],
        "variationId": 1692881
      }
    ]
  },
  "type": "amino-acid"
}