{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827305287",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 102,
          "referenceAllele": "N",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030791",
      "geneNCBI_id": 29914,
      "geneSymbol": "UBIAD1",
      "hgvs": [
        "NP_001317279.1:p.Asn102Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114575",
          "hgvs": "NM_001330350.2:c.305A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622889"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15895[alleleid]",
        "alleleId": 15895,
        "preferredName": "NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/856",
        "RCV": [
          "RCV000000904"
        ],
        "variationId": 856
      }
    ]
  },
  "type": "amino-acid"
}