{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826030767",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 915,
          "referenceAllele": "R",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NP_001159764.1:p.Arg915His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340093881",
          "hgvs": "NM_001166292.2:c.2744G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2027976[alleleid]",
        "alleleId": 2027976,
        "preferredName": "NM_003738.5(PTCH2):c.2744G>A (p.Arg915His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1965384",
        "RCV": [
          "RCV002726770"
        ],
        "variationId": 1965384
      }
    ]
  },
  "type": "amino-acid"
}