{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA294266",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1964,
          "referenceAllele": "K",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Lys1964Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294264",
          "hgvs": "NM_000051.4:c.5890A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151840[alleleid]",
        "alleleId": 151840,
        "preferredName": "NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142126",
        "RCV": [
          "RCV000130965",
          "RCV000197688",
          "RCV000212034",
          "RCV000515322",
          "RCV001357333",
          "RCV002288644",
          "RCV001269498",
          "RCV003390822",
          "RCV003483502",
          "RCV003492611",
          "RCV003492610",
          "RCV004551259"
        ],
        "variationId": 142126
      }
    ]
  },
  "type": "amino-acid"
}