{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA157194",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 220,
          "referenceAllele": "A",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Ala220Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157192",
          "hgvs": "NM_000051.4:c.659C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137379[alleleid]",
        "alleleId": 137379,
        "preferredName": "NM_000051.4(ATM):c.659C>T (p.Ala220Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133640",
        "RCV": [
          "RCV000120165",
          "RCV000159677",
          "RCV000513410",
          "RCV000527646",
          "RCV000764936",
          "RCV001030516",
          "RCV001253154"
        ],
        "variationId": 133640
      }
    ]
  },
  "type": "amino-acid"
}