{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825503385",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 789,
          "referenceAllele": "N",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077073.1:p.Asn789Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138320",
          "hgvs": "NM_001083604.3:c.2366A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=836390[alleleid]",
        "alleleId": 836390,
        "preferredName": "NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/835188",
        "RCV": [
          "RCV001036013",
          "RCV002256645"
        ],
        "variationId": 835188
      }
    ]
  },
  "type": "amino-acid"
}