{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530886",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 559,
          "referenceAllele": "L",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Leu559Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA134647",
          "hgvs": "NM_001374625.1:c.1675C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53766[alleleid]",
        "alleleId": 53766,
        "preferredName": "NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44599",
        "RCV": [
          "RCV000037623",
          "RCV000157702",
          "RCV000159057",
          "RCV000515375",
          "RCV000988918",
          "RCV002399376",
          "RCV001813327",
          "RCV004534798"
        ],
        "variationId": 44599
      }
    ]
  },
  "type": "amino-acid"
}