{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA294424",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 935,
          "referenceAllele": "T",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Thr935Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294422",
          "hgvs": "NM_000051.4:c.2804C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152217[alleleid]",
        "alleleId": 152217,
        "preferredName": "NM_000051.4(ATM):c.2804C>T (p.Thr935Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142503",
        "RCV": [
          "RCV000131651",
          "RCV000204695",
          "RCV000211988",
          "RCV000780917",
          "RCV001358229",
          "RCV002291569"
        ],
        "variationId": 142503
      }
    ]
  },
  "type": "amino-acid"
}