{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827248619",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 3,
          "referenceAllele": "N",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030881",
      "geneNCBI_id": 79868,
      "geneSymbol": "ALG13",
      "hgvs": [
        "NP_001311223.1:p.Asn3Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414248698",
          "hgvs": "NM_001324294.2:c.8A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=858366[alleleid]",
        "alleleId": 858366,
        "preferredName": "NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/870209",
        "RCV": [
          "RCV001089751"
        ],
        "variationId": 870209
      }
    ]
  },
  "type": "amino-acid"
}