{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827194293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 222,
          "referenceAllele": "F",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NP_001310473.1:p.Phe222Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397080738",
          "hgvs": "NM_001323544.2:c.666C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397080740",
          "hgvs": "NM_001323544.2:c.666C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397080759",
          "hgvs": "NM_001323544.2:c.664T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1394895[alleleid]",
        "alleleId": 1394895,
        "preferredName": "NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1470668",
        "RCV": [
          "RCV001973323"
        ],
        "variationId": 1470668
      }
    ]
  },
  "type": "amino-acid"
}