{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573095636",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 39,
          "referenceAllele": "E",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NP_077288.2:p.Glu39Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6747011",
          "hgvs": "NM_024312.5:c.117G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386486864",
          "hgvs": "NM_024312.5:c.117G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1293979[alleleid]",
        "alleleId": 1293979,
        "preferredName": "NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1303703",
        "RCV": [
          "RCV001764819",
          "RCV002246474"
        ],
        "variationId": 1303703
      }
    ]
  },
  "type": "amino-acid"
}