{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499242016",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 94,
          "referenceAllele": "M",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_001188330.1:p.Met94Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390752762",
          "hgvs": "NM_001201401.2:c.280A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390752765",
          "hgvs": "NM_001201401.2:c.280A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056193[alleleid]",
        "alleleId": 1056193,
        "preferredName": "NM_000153.4(GALC):c.349A>C (p.Met117Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1491006[alleleid]",
        "alleleId": 1491006,
        "preferredName": "NM_000153.4(GALC):c.349A>T (p.Met117Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1066196",
        "RCV": [
          "RCV001377131",
          "RCV003481102"
        ],
        "variationId": 1066196
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1458657",
        "RCV": [
          "RCV001949562"
        ],
        "variationId": 1458657
      }
    ]
  },
  "type": "amino-acid"
}