{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825661279",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1178,
          "referenceAllele": "V",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NP_001121364.1:p.Val1178Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8052821",
          "hgvs": "NM_001127892.1:c.3532G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152177"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=255786[alleleid]",
        "alleleId": 255786,
        "preferredName": "NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/258871",
        "RCV": [
          "RCV000242039",
          "RCV000349793",
          "RCV001520813",
          "RCV001640526"
        ],
        "variationId": 258871
      }
    ]
  },
  "type": "amino-acid"
}