{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA119303",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 535,
          "referenceAllele": "W",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "NP_005622.1:p.Trp535Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119302",
          "hgvs": "NM_005631.5:c.1604G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171252"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23156[alleleid]",
        "alleleId": 23156,
        "preferredName": "NM_005631.5(SMO):c.1604G>T (p.Trp535Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8117",
        "RCV": [
          "RCV000008586"
        ],
        "variationId": 8117
      }
    ]
  },
  "type": "amino-acid"
}