{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916032890",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1321,
          "referenceAllele": "M",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Met1321Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA298235",
          "hgvs": "NM_001351834.2:c.3961A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180451[alleleid]",
        "alleleId": 180451,
        "preferredName": "NM_000051.4(ATM):c.3961A>G (p.Met1321Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181953",
        "RCV": [
          "RCV000159720",
          "RCV000573270",
          "RCV000703729",
          "RCV001357834"
        ],
        "variationId": 181953
      }
    ]
  },
  "type": "amino-acid"
}