{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645471931",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 353,
          "referenceAllele": "E",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "NP_004966.1:p.Glu353Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16607998",
          "hgvs": "NM_004975.4:c.1057G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170644"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=377080[alleleid]",
        "alleleId": 377080,
        "preferredName": "NM_004975.4(KCNB1):c.1057G>A (p.Glu353Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/392897",
        "RCV": [
          "RCV000441478"
        ],
        "variationId": 392897
      }
    ]
  },
  "type": "amino-acid"
}