{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825276240",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1450,
          "referenceAllele": "D",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NP_001005731.1:p.Asp1450Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8770143",
          "hgvs": "NM_001005731.3:c.4348G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148252"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2107878[alleleid]",
        "alleleId": 2107878,
        "preferredName": "NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2051287",
        "RCV": [
          "RCV002927139",
          "RCV003147799",
          "RCV003147800"
        ],
        "variationId": 2051287
      }
    ]
  },
  "type": "amino-acid"
}