{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826467772",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 205,
          "referenceAllele": "N",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NP_001245261.1:p.Asn205Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116380",
          "hgvs": "NM_001258332.2:c.613A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160273"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18652[alleleid]",
        "alleleId": 18652,
        "preferredName": "NM_000155.4(GALT):c.940A>G (p.Asn314Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3613",
        "RCV": [
          "RCV000003797",
          "RCV000022233",
          "RCV000078243",
          "RCV000309989",
          "RCV003891427"
        ],
        "variationId": 3613
      }
    ]
  },
  "type": "amino-acid"
}