{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828472717",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1548,
          "referenceAllele": "M",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NP_001358175.1:p.Met1548Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044310",
          "hgvs": "NM_001371246.1:c.4643T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708640"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362321[alleleid]",
        "alleleId": 362321,
        "preferredName": "NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375506",
        "RCV": [
          "RCV000417035",
          "RCV002521495"
        ],
        "variationId": 375506
      }
    ]
  },
  "type": "amino-acid"
}