{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825509340",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 278,
          "referenceAllele": "D",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077075.1:p.Asp278Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138708",
          "hgvs": "NM_001083606.3:c.832G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240687[alleleid]",
        "alleleId": 240687,
        "preferredName": "NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237452",
        "RCV": [
          "RCV000233892",
          "RCV002378972"
        ],
        "variationId": 237452
      }
    ]
  },
  "type": "amino-acid"
}