{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916033755",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 2023,
          "referenceAllele": "G",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Gly2023Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157150",
          "hgvs": "NM_001351834.2:c.6067G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382550073",
          "hgvs": "NM_001351834.2:c.6067G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132873[alleleid]",
        "alleleId": 132873,
        "preferredName": "NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2185729[alleleid]",
        "alleleId": 2185729,
        "preferredName": "NM_000051.4(ATM):c.6067G>C (p.Gly2023Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127416",
        "RCV": [
          "RCV000115221",
          "RCV000120151",
          "RCV000122864",
          "RCV000513642",
          "RCV001253480",
          "RCV001356569",
          "RCV001798320",
          "RCV002225322",
          "RCV002225321"
        ],
        "variationId": 127416
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2127852",
        "RCV": [
          "RCV003036051"
        ],
        "variationId": 2127852
      }
    ]
  },
  "type": "amino-acid"
}