{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827787530",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 259,
          "referenceAllele": "S",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340889.1:p.Ser259Arg"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA285258",
          "hgvs": "NM_001353960.2:c.777C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349073448",
          "hgvs": "NM_001353960.2:c.777C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349073464",
          "hgvs": "NM_001353960.2:c.775A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79565[alleleid]",
        "alleleId": 79565,
        "preferredName": "NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224462[alleleid]",
        "alleleId": 3224462,
        "preferredName": "NM_001165963.4(SCN1A):c.777C>G (p.Ser259Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68673",
        "RCV": [
          "RCV000059553",
          "RCV000678837"
        ],
        "variationId": 68673
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3067163",
        "RCV": [
          "RCV003992852"
        ],
        "variationId": 3067163
      }
    ]
  },
  "type": "amino-acid"
}