{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573279026",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 142,
          "referenceAllele": "P",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "NP_071449.1:p.Pro142Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7928197",
          "hgvs": "NM_022166.4:c.425C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177785"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1338465[alleleid]",
        "alleleId": 1338465,
        "preferredName": "NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1394442",
        "RCV": [
          "RCV001898529"
        ],
        "variationId": 1394442
      }
    ]
  },
  "type": "amino-acid"
}