{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA220151",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "Y",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_002825.3:p.Tyr279Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220149",
          "hgvs": "NM_002834.5:c.836A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168665"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28367[alleleid]",
        "alleleId": 28367,
        "preferredName": "NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13328",
        "RCV": [
          "RCV000030620",
          "RCV000033504",
          "RCV000055890",
          "RCV000077859",
          "RCV000577894",
          "RCV000617951",
          "RCV000492270",
          "RCV000768062",
          "RCV001000775",
          "RCV000824744",
          "RCV001813194",
          "RCV004528108"
        ],
        "variationId": 13328
      }
    ]
  },
  "type": "amino-acid"
}