{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827194051",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 205,
          "referenceAllele": "L",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NP_001310472.1:p.Leu205Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397097672",
          "hgvs": "NM_001323543.2:c.614T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624734"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036176[alleleid]",
        "alleleId": 1036176,
        "preferredName": "NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048235",
        "RCV": [
          "RCV001578337"
        ],
        "variationId": 1048235
      }
    ]
  },
  "type": "amino-acid"
}