{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530597",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 281,
          "referenceAllele": "I",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Ile281Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220152",
          "hgvs": "NM_001374625.1:c.841A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48995[alleleid]",
        "alleleId": 48995,
        "preferredName": "NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40525",
        "RCV": [
          "RCV000033505",
          "RCV000077860",
          "RCV000824745",
          "RCV001283770",
          "RCV001731328",
          "RCV001813250",
          "RCV002054539",
          "RCV002273940",
          "RCV002444453",
          "RCV003153317",
          "RCV003387505"
        ],
        "variationId": 40525
      }
    ]
  },
  "type": "amino-acid"
}