{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499252627",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 86,
          "referenceAllele": "M",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341848.1:p.Met86Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138936",
          "hgvs": "NM_001354919.1:c.256A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625387"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969934[alleleid]",
        "alleleId": 969934,
        "preferredName": "NM_000264.5(PTCH1):c.454A>G (p.Met152Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981837",
        "RCV": [
          "RCV001374516",
          "RCV001880015",
          "RCV004035390"
        ],
        "variationId": 981837
      }
    ]
  },
  "type": "amino-acid"
}