{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826254249",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "T",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_001188330.1:p.Thr618Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145810",
          "hgvs": "NM_001201401.2:c.1852A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA264674684",
          "hgvs": "NM_001201401.2:c.1851_1852delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98409[alleleid]",
        "alleleId": 98409,
        "preferredName": "NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1102606[alleleid]",
        "alleleId": 1102606,
        "preferredName": "NM_000153.4(GALC):c.1920_1921inv (p.Thr641Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92500",
        "RCV": [
          "RCV000078197",
          "RCV000290698",
          "RCV000586993"
        ],
        "variationId": 92500
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1100101",
        "RCV": [
          "RCV001422616"
        ],
        "variationId": 1100101
      }
    ]
  },
  "type": "amino-acid"
}