{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916044402",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "V",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NP_001350766.1:p.Val311Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8040659",
          "hgvs": "NM_001363837.1:c.932T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625831"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=341530[alleleid]",
        "alleleId": 341530,
        "preferredName": "NM_000293.3(PHKB):c.932T>C (p.Val311Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319343",
        "RCV": [
          "RCV000389565",
          "RCV000675924"
        ],
        "variationId": 319343
      }
    ]
  },
  "type": "amino-acid"
}