{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA273409",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 491,
          "referenceAllele": "P",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_002825.3:p.Pro491Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA273407",
          "hgvs": "NM_002834.5:c.1472C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168665"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49022[alleleid]",
        "alleleId": 49022,
        "preferredName": "NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40552",
        "RCV": [
          "RCV000033538",
          "RCV000156989",
          "RCV000254685",
          "RCV001002769",
          "RCV001335067",
          "RCV001813258",
          "RCV002504856",
          "RCV004532492"
        ],
        "variationId": 40552
      }
    ]
  },
  "type": "amino-acid"
}