{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA282113",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "S",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_002825.3:p.Ser350Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA282111",
          "hgvs": "NM_002834.5:c.1048T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168665"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49010[alleleid]",
        "alleleId": 49010,
        "preferredName": "NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40540",
        "RCV": [
          "RCV000033523",
          "RCV000763793",
          "RCV003539767",
          "RCV004018712"
        ],
        "variationId": 40540
      }
    ]
  },
  "type": "amino-acid"
}