{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826928283",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 337,
          "referenceAllele": "P",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NP_001295093.1:p.Pro337Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355177168",
          "hgvs": "NM_001308164.2:c.1009C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166654"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857615[alleleid]",
        "alleleId": 857615,
        "preferredName": "NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869394",
        "RCV": [
          "RCV001089485"
        ],
        "variationId": 869394
      }
    ]
  },
  "type": "amino-acid"
}