{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828031517",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 167,
          "referenceAllele": "A",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Ala167Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA332582",
          "hgvs": "NM_001354918.1:c.500C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139615[alleleid]",
        "alleleId": 139615,
        "preferredName": "NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135903",
        "RCV": [
          "RCV000123039",
          "RCV000570937",
          "RCV002460925",
          "RCV003467087"
        ],
        "variationId": 135903
      }
    ]
  },
  "type": "amino-acid"
}