{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916056444",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 69,
          "referenceAllele": "E",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_542168.1:p.Glu69Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354979",
          "hgvs": "NM_080601.3:c.205G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226150[alleleid]",
        "alleleId": 226150,
        "preferredName": "NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224414",
        "RCV": [
          "RCV000210038",
          "RCV001250211",
          "RCV002415881"
        ],
        "variationId": 224414
      }
    ]
  },
  "type": "amino-acid"
}