{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825356707",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 127,
          "referenceAllele": "D",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NP_001027005.1:p.Asp127Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8040462",
          "hgvs": "NM_001031835.3:c.379G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=335076[alleleid]",
        "alleleId": 335076,
        "preferredName": "NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319333",
        "RCV": [
          "RCV000530542",
          "RCV000675920",
          "RCV003940252"
        ],
        "variationId": 319333
      }
    ]
  },
  "type": "amino-acid"
}