{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA201121",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 916,
          "referenceAllele": "N",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Asn916Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA201120",
          "hgvs": "NM_000334.4:c.2748C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400625207",
          "hgvs": "NM_000334.4:c.2748C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191492[alleleid]",
        "alleleId": 191492,
        "preferredName": "NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194329",
        "RCV": [
          "RCV000174672",
          "RCV000710210",
          "RCV001085657",
          "RCV002516640"
        ],
        "variationId": 194329
      }
    ]
  },
  "type": "amino-acid"
}