{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916032139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 780,
          "referenceAllele": "M",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Met780Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA164275",
          "hgvs": "NM_001351834.2:c.2338A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382540120",
          "hgvs": "NM_001351834.2:c.2338A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150745[alleleid]",
        "alleleId": 150745,
        "preferredName": "NM_000051.4(ATM):c.2338A>T (p.Met780Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141031",
        "RCV": [
          "RCV000129362",
          "RCV000560137",
          "RCV001249848",
          "RCV001770101"
        ],
        "variationId": 141031
      }
    ]
  },
  "type": "amino-acid"
}