{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580328664",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 467,
          "referenceAllele": "L",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006821",
      "geneNCBI_id": 4121,
      "geneSymbol": "MAN1A1",
      "hgvs": [
        "NP_005898.2:p.Leu467Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365553397",
          "hgvs": "NM_005907.4:c.1400T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171498"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2246692[alleleid]",
        "alleleId": 2246692,
        "preferredName": "NM_005907.4(MAN1A1):c.1400T>C (p.Leu467Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2254687",
        "RCV": [
          "RCV004110419"
        ],
        "variationId": 2254687
      }
    ]
  },
  "type": "amino-acid"
}