{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098670",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 341,
          "referenceAllele": "S",
          "start": 340
        }
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      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
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          "hgvs": "NM_000512.5:c.1023C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397098622",
          "hgvs": "NM_000512.5:c.1023C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397098636",
          "hgvs": "NM_000512.5:c.1021A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147047"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036205[alleleid]",
        "alleleId": 1036205,
        "preferredName": "NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2099564[alleleid]",
        "alleleId": 2099564,
        "preferredName": "NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2414762[alleleid]",
        "alleleId": 2414762,
        "preferredName": "NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048436",
        "RCV": [
          "RCV001578537"
        ],
        "variationId": 1048436
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2044274",
        "RCV": [
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        ],
        "variationId": 2044274
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2440401",
        "RCV": [
          "RCV003145782"
        ],
        "variationId": 2440401
      }
    ]
  },
  "type": "amino-acid"
}