{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580404721",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1618,
          "referenceAllele": "P",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NP_060087.3:p.Pro1618Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375644672",
          "hgvs": "NM_017617.5:c.4852C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175577"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1705396[alleleid]",
        "alleleId": 1705396,
        "preferredName": "NM_017617.5(NOTCH1):c.4852C>T (p.Pro1618Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1707085",
        "RCV": [
          "RCV002286001",
          "RCV003308098"
        ],
        "variationId": 1707085
      }
    ]
  },
  "type": "amino-acid"
}