{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221054",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 82,
          "referenceAllele": "S",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NP_000503.1:p.Ser82Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221053",
          "hgvs": "NM_000512.5:c.245C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147047"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99082[alleleid]",
        "alleleId": 99082,
        "preferredName": "NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93175",
        "RCV": [
          "RCV000079033",
          "RCV001352891",
          "RCV002271402"
        ],
        "variationId": 93175
      }
    ]
  },
  "type": "amino-acid"
}