{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915970167",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 79,
          "referenceAllele": "T",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077076.1:p.Thr79Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374114915",
          "hgvs": "NM_001083607.3:c.236C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150882"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=525043[alleleid]",
        "alleleId": 525043,
        "preferredName": "NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524591",
        "RCV": [
          "RCV000628428",
          "RCV001025771",
          "RCV002464272"
        ],
        "variationId": 524591
      }
    ]
  },
  "type": "amino-acid"
}