{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499249211",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 458,
          "referenceAllele": "F",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NP_001310473.1:p.Phe458Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397095886",
          "hgvs": "NM_001323544.2:c.1374C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397095888",
          "hgvs": "NM_001323544.2:c.1374C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397095899",
          "hgvs": "NM_001323544.2:c.1372T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036144[alleleid]",
        "alleleId": 1036144,
        "preferredName": "NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048506",
        "RCV": [
          "RCV001578613",
          "RCV004526842"
        ],
        "variationId": 1048506
      }
    ]
  },
  "type": "amino-acid"
}