{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645506236",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "referenceAllele": "P",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Pro813Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138403",
          "hgvs": "NM_000264.5:c.2437C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=371419[alleleid]",
        "alleleId": 371419,
        "preferredName": "NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379219",
        "RCV": [
          "RCV000552853",
          "RCV000432257",
          "RCV001015533",
          "RCV003237841"
        ],
        "variationId": 379219
      }
    ]
  },
  "type": "amino-acid"
}