{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825128326",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1329,
          "referenceAllele": "S",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NP_000258.1:p.Ser1329Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA398994829",
          "hgvs": "NM_000267.3:c.3986C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146814"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1369099[alleleid]",
        "alleleId": 1369099,
        "preferredName": "NM_001042492.3(NF1):c.3986C>T (p.Ser1329Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1495315",
        "RCV": [
          "RCV001991325",
          "RCV002370681"
        ],
        "variationId": 1495315
      }
    ]
  },
  "type": "amino-acid"
}