{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580361729",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 210,
          "referenceAllele": "H",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016805",
      "geneNCBI_id": 29964,
      "geneSymbol": "PRICKLE4",
      "hgvs": [
        "NP_037529.3:p.His210Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA364080919",
          "hgvs": "NM_013397.5:c.630T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA364080920",
          "hgvs": "NM_013397.5:c.630T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173318"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2234903[alleleid]",
        "alleleId": 2234903,
        "preferredName": "NM_013397.6(PRICKLE4):c.630T>G (p.His210Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2248940",
        "RCV": [
          "RCV004113110"
        ],
        "variationId": 2248940
      }
    ]
  },
  "type": "amino-acid"
}