{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916026669",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 314,
          "referenceAllele": "P",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "NP_001309424.1:p.Pro314Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119696",
          "hgvs": "NM_001322495.1:c.941C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622625"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23569[alleleid]",
        "alleleId": 23569,
        "preferredName": "NM_000178.4(GSS):c.941C>T (p.Pro314Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8530",
        "RCV": [
          "RCV000009056",
          "RCV000601337",
          "RCV002227019"
        ],
        "variationId": 8530
      }
    ]
  },
  "type": "amino-acid"
}