{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825494690",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 621,
          "referenceAllele": "V",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077072.1:p.Val621Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138490",
          "hgvs": "NM_001083603.3:c.1861G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374116164",
          "hgvs": "NM_001083603.3:c.1861G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150878"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=566045[alleleid]",
        "alleleId": 566045,
        "preferredName": "NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/565614",
        "RCV": [
          "RCV000685218",
          "RCV001013443",
          "RCV002252215",
          "RCV003231576",
          "RCV004547851"
        ],
        "variationId": 565614
      }
    ]
  },
  "type": "amino-acid"
}