{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827499291",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 457,
          "referenceAllele": "I",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006077",
      "geneNCBI_id": 3633,
      "geneSymbol": "INPP5B",
      "hgvs": [
        "NP_001337156.1:p.Ile457Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA775729",
          "hgvs": "NM_001350227.1:c.1369A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647221"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3267789[alleleid]",
        "alleleId": 3267789,
        "preferredName": "NM_005540.3(INPP5B):c.2029A>T (p.Ile677Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3109817",
        "RCV": [
          "RCV004398163"
        ],
        "variationId": 3109817
      }
    ]
  },
  "type": "amino-acid"
}