{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100759",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 48,
          "referenceAllele": "F",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NP_000254.2:p.Phe48Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA115052",
          "hgvs": "NM_000263.4:c.142T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA290771267",
          "hgvs": "NM_000263.4:c.144C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399595410",
          "hgvs": "NM_000263.4:c.144C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16608[alleleid]",
        "alleleId": 16608,
        "preferredName": "NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548138[alleleid]",
        "alleleId": 548138,
        "preferredName": "NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1871630[alleleid]",
        "alleleId": 1871630,
        "preferredName": "NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1569",
        "RCV": [
          "RCV000001635",
          "RCV002512655"
        ],
        "variationId": 1569
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555776",
        "RCV": [
          "RCV000671657",
          "RCV001868256"
        ],
        "variationId": 555776
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138021",
        "RCV": [
          "RCV003050471"
        ],
        "variationId": 2138021
      }
    ]
  },
  "type": "amino-acid"
}