{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573286081",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 149,
          "referenceAllele": "I",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NP_077288.2:p.Ile149Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA386305034",
          "hgvs": "NM_024312.5:c.445A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1596942[alleleid]",
        "alleleId": 1596942,
        "preferredName": "NM_024312.5(GNPTAB):c.445A>G (p.Ile149Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1537349",
        "RCV": [
          "RCV002157188"
        ],
        "variationId": 1537349
      }
    ]
  },
  "type": "amino-acid"
}