{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA191012",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1229,
          "referenceAllele": "N",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NP_001035957.1:p.Asn1229Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA191008",
          "hgvs": "NM_001042492.3:c.3686A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150194"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184633[alleleid]",
        "alleleId": 184633,
        "preferredName": "NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185096",
        "RCV": [
          "RCV000164457",
          "RCV000473108",
          "RCV000614422",
          "RCV004552890"
        ],
        "variationId": 185096
      }
    ]
  },
  "type": "amino-acid"
}