{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826030420",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 339,
          "referenceAllele": "H",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NP_001159764.1:p.His339Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA823464",
          "hgvs": "NM_001166292.2:c.1016A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=685808[alleleid]",
        "alleleId": 685808,
        "preferredName": "NM_003738.5(PTCH2):c.1016A>G (p.His339Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/701356",
        "RCV": [
          "RCV000869864",
          "RCV004027763"
        ],
        "variationId": 701356
      }
    ]
  },
  "type": "amino-acid"
}