{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915961212",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 241,
          "referenceAllele": "M",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Met241Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2499874",
          "hgvs": "NM_000158.4:c.721A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=296336[alleleid]",
        "alleleId": 296336,
        "preferredName": "NM_000158.4(GBE1):c.721A>G (p.Met241Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/346793",
        "RCV": [
          "RCV000272591",
          "RCV000329970",
          "RCV004530401",
          "RCV002523458"
        ],
        "variationId": 346793
      }
    ]
  },
  "type": "amino-acid"
}