{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916032963",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1380,
          "referenceAllele": "H",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.His1380Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157116",
          "hgvs": "NM_001351834.2:c.4138C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137358[alleleid]",
        "alleleId": 137358,
        "preferredName": "NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133619",
        "RCV": [
          "RCV000120137",
          "RCV000128897",
          "RCV000284881",
          "RCV000710672",
          "RCV003315726",
          "RCV002225360",
          "RCV003149821"
        ],
        "variationId": 133619
      }
    ]
  },
  "type": "amino-acid"
}