{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580295715",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1036,
          "referenceAllele": "V",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NP_003729.3:p.Val1036Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA822806",
          "hgvs": "NM_003738.5:c.3106G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169502"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2114929[alleleid]",
        "alleleId": 2114929,
        "preferredName": "NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2050584",
        "RCV": [
          "RCV002921983",
          "RCV004066286"
        ],
        "variationId": 2050584
      }
    ]
  },
  "type": "amino-acid"
}