{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827780356",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1464,
          "referenceAllele": "N",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340884.1:p.Asn1464Lys"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA349049305",
          "hgvs": "NM_001353955.2:c.4392C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349049307",
          "hgvs": "NM_001353955.2:c.4392C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618214"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790091[alleleid]",
        "alleleId": 790091,
        "preferredName": "NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=858337[alleleid]",
        "alleleId": 858337,
        "preferredName": "NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801794",
        "RCV": [
          "RCV000986879",
          "RCV001070314"
        ],
        "variationId": 801794
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/870158",
        "RCV": [
          "RCV001089693"
        ],
        "variationId": 870158
      }
    ]
  },
  "type": "amino-acid"
}