{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA247842",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "S",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "NP_942559.1:p.Ser731Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247841",
          "hgvs": "NM_198859.4:c.2191A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185257"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196091[alleleid]",
        "alleleId": 196091,
        "preferredName": "NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198931",
        "RCV": [
          "RCV000180391",
          "RCV001078811",
          "RCV003977483"
        ],
        "variationId": 198931
      }
    ]
  },
  "type": "amino-acid"
}