{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580459724",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1393,
          "referenceAllele": "R",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007882",
      "geneNCBI_id": 4853,
      "geneSymbol": "NOTCH2",
      "hgvs": [
        "NP_077719.2:p.Arg1393Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341890538",
          "hgvs": "NM_024408.4:c.4177C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178279"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2181276[alleleid]",
        "alleleId": 2181276,
        "preferredName": "NM_024408.4(NOTCH2):c.4177C>G (p.Arg1393Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2124682",
        "RCV": [
          "RCV003057283"
        ],
        "variationId": 2124682
      }
    ]
  },
  "type": "amino-acid"
}