{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057247934",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 149,
          "referenceAllele": "W",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "NP_001473.1:p.Trp149Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7542936",
          "hgvs": "NM_001482.3:c.446G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167409"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3410129[alleleid]",
        "alleleId": 3410129,
        "preferredName": "NM_001482.3(GATM):c.446G>T (p.Trp149Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3251330",
        "RCV": [
          "RCV004587736"
        ],
        "variationId": 3251330
      }
    ]
  },
  "type": "amino-acid"
}