{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645426044",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NP_065169.1:p.Thr679Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9912190",
          "hgvs": "NM_020436.5:c.2036C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA409008280",
          "hgvs": "NM_020436.5:c.2035A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176932"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265874[alleleid]",
        "alleleId": 265874,
        "preferredName": "NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281637",
        "RCV": [
          "RCV000379264",
          "RCV002494817",
          "RCV004021083"
        ],
        "variationId": 281637
      }
    ]
  },
  "type": "amino-acid"
}