{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645425293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 248,
          "referenceAllele": "A",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NP_000021.1:p.Ala248Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2209225",
          "hgvs": "NM_000030.3:c.743C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146583"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=367164[alleleid]",
        "alleleId": 367164,
        "preferredName": "NM_000030.3(AGXT):c.743C>T (p.Ala248Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/383368",
        "RCV": [
          "RCV000436183",
          "RCV001276582",
          "RCV003243122"
        ],
        "variationId": 383368
      }
    ]
  },
  "type": "amino-acid"
}