{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916016460",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "NP_055513.2:p.Gly567Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345013651",
          "hgvs": "NM_014698.3:c.1699G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=677054[alleleid]",
        "alleleId": 677054,
        "preferredName": "NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/689461",
        "RCV": [
          "RCV000884698",
          "RCV000850176"
        ],
        "variationId": 689461
      }
    ]
  },
  "type": "amino-acid"
}