{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658811008",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 438,
          "referenceAllele": "Q",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "NP_942559.1:p.Gln438His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2479655",
          "hgvs": "NM_198859.4:c.1314G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353430114",
          "hgvs": "NM_198859.4:c.1314G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185257"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426664[alleleid]",
        "alleleId": 426664,
        "preferredName": "NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433101",
        "RCV": [
          "RCV000591474",
          "RCV000655990",
          "RCV001081842",
          "RCV001147251"
        ],
        "variationId": 433101
      }
    ]
  },
  "type": "amino-acid"
}