{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499264622",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 597,
          "referenceAllele": "T",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NP_003729.3:p.Thr597Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA823164",
          "hgvs": "NM_003738.5:c.1790C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169502"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1067355[alleleid]",
        "alleleId": 1067355,
        "preferredName": "NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1097274",
        "RCV": [
          "RCV001418769",
          "RCV004038158"
        ],
        "variationId": 1097274
      }
    ]
  },
  "type": "amino-acid"
}