{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453351",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 374,
          "referenceAllele": "E",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Glu374Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8709918",
          "hgvs": "NM_000334.4:c.1120G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=346790[alleleid]",
        "alleleId": 346790,
        "preferredName": "NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/324546",
        "RCV": [
          "RCV000288041",
          "RCV000291434",
          "RCV000345383",
          "RCV000348654",
          "RCV000383669",
          "RCV000945786",
          "RCV001288735"
        ],
        "variationId": 324546
      }
    ]
  },
  "type": "amino-acid"
}