{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827788534",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 957,
          "referenceAllele": "L",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340889.1:p.Leu957Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281911",
          "hgvs": "NM_001353960.2:c.2869C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27929[alleleid]",
        "alleleId": 27929,
        "preferredName": "NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12890",
        "RCV": [
          "RCV000032605",
          "RCV000794577"
        ],
        "variationId": 12890
      }
    ]
  },
  "type": "amino-acid"
}