{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916056411",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_542168.1:p.Gly60Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215448",
          "hgvs": "NM_080601.3:c.178G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49880[alleleid]",
        "alleleId": 49880,
        "preferredName": "NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41442",
        "RCV": [
          "RCV000034327",
          "RCV002408501",
          "RCV002514147"
        ],
        "variationId": 41442
      }
    ]
  },
  "type": "amino-acid"
}