{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825355019",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 922,
          "referenceAllele": "R",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NP_001035232.1:p.Arg922His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042346",
          "hgvs": "NM_001040142.2:c.2765G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149996"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359291[alleleid]",
        "alleleId": 359291,
        "preferredName": "NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372885",
        "RCV": [
          "RCV000414442",
          "RCV002272223",
          "RCV002436235",
          "RCV002509379"
        ],
        "variationId": 372885
      }
    ]
  },
  "type": "amino-acid"
}