{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916033039",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1442,
          "referenceAllele": "Y",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Tyr1442His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA286840",
          "hgvs": "NM_001351834.2:c.4324T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132842[alleleid]",
        "alleleId": 132842,
        "preferredName": "NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127385",
        "RCV": [
          "RCV000115190",
          "RCV000168302",
          "RCV000586538",
          "RCV000855627",
          "RCV000515173",
          "RCV001355810",
          "RCV001257491",
          "RCV003149793",
          "RCV003482131",
          "RCV004549551"
        ],
        "variationId": 127385
      }
    ]
  },
  "type": "amino-acid"
}