{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA235330",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 308,
          "referenceAllele": "N",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_002825.3:p.Asn308Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235328",
          "hgvs": "NM_002834.5:c.923A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168665"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28366[alleleid]",
        "alleleId": 28366,
        "preferredName": "NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13327",
        "RCV": [
          "RCV000014255",
          "RCV000037669",
          "RCV000033518",
          "RCV000157682",
          "RCV000588570",
          "RCV000515421",
          "RCV001027696",
          "RCV001197417",
          "RCV001813193",
          "RCV004532339"
        ],
        "variationId": 13327
      }
    ]
  },
  "type": "amino-acid"
}