{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA338123",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 130,
          "referenceAllele": "V",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Val130Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338120",
          "hgvs": "NM_000264.5:c.388G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212753[alleleid]",
        "alleleId": 212753,
        "preferredName": "NM_000264.5(PTCH1):c.388G>A (p.Val130Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216385",
        "RCV": [
          "RCV000198695",
          "RCV000566926",
          "RCV001818488"
        ],
        "variationId": 216385
      }
    ]
  },
  "type": "amino-acid"
}