{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580515992",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1050,
          "referenceAllele": "S",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031792",
      "geneNCBI_id": 259282,
      "geneSymbol": "BOD1L1",
      "hgvs": [
        "NP_683692.2:p.Ser1050Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2861859",
          "hgvs": "NM_148894.3:c.3149G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182178"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2204814[alleleid]",
        "alleleId": 2204814,
        "preferredName": "NM_148894.3(BOD1L1):c.3149G>A (p.Ser1050Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2211431",
        "RCV": [
          "RCV004075068"
        ],
        "variationId": 2211431
      }
    ]
  },
  "type": "amino-acid"
}