{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645390426",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 167,
          "referenceAllele": "I",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NP_077288.2:p.Ile167Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6746871",
          "hgvs": "NM_024312.5:c.500T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265256[alleleid]",
        "alleleId": 265256,
        "preferredName": "NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281019",
        "RCV": [
          "RCV000333955",
          "RCV000765037",
          "RCV001114209",
          "RCV001110169",
          "RCV002519075"
        ],
        "variationId": 281019
      }
    ]
  },
  "type": "amino-acid"
}