{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA286968",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2394,
          "referenceAllele": "S",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Ser2394Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA286966",
          "hgvs": "NM_000051.4:c.7181C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132894[alleleid]",
        "alleleId": 132894,
        "preferredName": "NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127437",
        "RCV": [
          "RCV000115242",
          "RCV000494662",
          "RCV000534806",
          "RCV001171474",
          "RCV003467031",
          "RCV002483185"
        ],
        "variationId": 127437
      }
    ]
  },
  "type": "amino-acid"
}