{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827786050",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1320,
          "referenceAllele": "M",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340887.1:p.Met1320Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA303495",
          "hgvs": "NM_001353958.2:c.3960G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA59769826",
          "hgvs": "NM_001353958.2:c.3960G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349050717",
          "hgvs": "NM_001353958.2:c.3960G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618015"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187753[alleleid]",
        "alleleId": 187753,
        "preferredName": "NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421307[alleleid]",
        "alleleId": 421307,
        "preferredName": "NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189991",
        "RCV": [
          "RCV000180947"
        ],
        "variationId": 189991
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429551",
        "RCV": [
          "RCV000493892"
        ],
        "variationId": 429551
      }
    ]
  },
  "type": "amino-acid"
}