{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580405441",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 2198,
          "referenceAllele": "S",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NP_060087.3:p.Ser2198Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375631126",
          "hgvs": "NM_017617.5:c.6593C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175577"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1772980[alleleid]",
        "alleleId": 1772980,
        "preferredName": "NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1721646",
        "RCV": [
          "RCV002302168"
        ],
        "variationId": 1721646
      }
    ]
  },
  "type": "amino-acid"
}