{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA193832",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1326,
          "referenceAllele": "N",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Asn1326Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA193830",
          "hgvs": "NM_000051.4:c.3978C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382526212",
          "hgvs": "NM_000051.4:c.3978C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183265[alleleid]",
        "alleleId": 183265,
        "preferredName": "NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186087",
        "RCV": [
          "RCV000165616",
          "RCV000472893",
          "RCV000481947",
          "RCV002478509",
          "RCV003114316",
          "RCV003468748"
        ],
        "variationId": 186087
      }
    ]
  },
  "type": "amino-acid"
}