{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110941",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 562,
          "referenceAllele": "P",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NP_006763.2:p.Pro562Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130846",
          "hgvs": "NM_006772.3:c.1685C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172291"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49898[alleleid]",
        "alleleId": 49898,
        "preferredName": "NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41462",
        "RCV": [
          "RCV000034348",
          "RCV000254832",
          "RCV000623832",
          "RCV001265525",
          "RCV002273941",
          "RCV003156067"
        ],
        "variationId": 41462
      }
    ]
  },
  "type": "amino-acid"
}