{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA220136",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 468,
          "referenceAllele": "T",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_002825.3:p.Thr468Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220134",
          "hgvs": "NM_002834.5:c.1403C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168665"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28370[alleleid]",
        "alleleId": 28370,
        "preferredName": "NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13331",
        "RCV": [
          "RCV000033533",
          "RCV000055884",
          "RCV000077851",
          "RCV000106323",
          "RCV000157014",
          "RCV000208002",
          "RCV000515406",
          "RCV000723326",
          "RCV000853462",
          "RCV001813197",
          "RCV002390104"
        ],
        "variationId": 13331
      }
    ]
  },
  "type": "amino-acid"
}