{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828167506",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2264,
          "referenceAllele": "N",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NP_001352045.1:p.Asn2264Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352536746",
          "hgvs": "NM_001365116.2:c.6791A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657429"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676363[alleleid]",
        "alleleId": 1676363,
        "preferredName": "NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684434",
        "RCV": [
          "RCV002245440"
        ],
        "variationId": 1684434
      }
    ]
  },
  "type": "amino-acid"
}