{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828754363",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1472,
          "referenceAllele": "T",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001850",
      "geneNCBI_id": 9620,
      "geneSymbol": "CELSR1",
      "hgvs": [
        "NP_001365257.1:p.Thr1472Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325144825",
          "hgvs": "NM_001378328.1:c.4415C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411922927",
          "hgvs": "NM_001378328.1:c.4414A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737875"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=974535[alleleid]",
        "alleleId": 974535,
        "preferredName": "NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/986386",
        "RCV": [
          "RCV001267716"
        ],
        "variationId": 986386
      }
    ]
  },
  "type": "amino-acid"
}