{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825502455",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 577,
          "referenceAllele": "T",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077073.1:p.Thr577Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145935",
          "hgvs": "NM_001083604.3:c.1730C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23261[alleleid]",
        "alleleId": 23261,
        "preferredName": "NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8222",
        "RCV": [
          "RCV000008705",
          "RCV000034564",
          "RCV000078462",
          "RCV000206005",
          "RCV000568375",
          "RCV002504769"
        ],
        "variationId": 8222
      }
    ]
  },
  "type": "amino-acid"
}