{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 448,
          "referenceAllele": "D",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NP_001005741.1:p.Asp448His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA028618",
          "hgvs": "NM_001005741.2:c.[1342G>C;882T>G]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA221392",
          "hgvs": "NM_001005741.2:c.1342G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148256"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19332[alleleid]",
        "alleleId": 19332,
        "preferredName": "NM_000157.4(GBA1):c.1342G>C (p.Asp448His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4293",
        "RCV": [
          "RCV000004522",
          "RCV000004523",
          "RCV000004524",
          "RCV000004525",
          "RCV000004526",
          "RCV000055773",
          "RCV000079338",
          "RCV000762853",
          "RCV001004114",
          "RCV001836695",
          "RCV004018557"
        ],
        "variationId": 4293
      }
    ]
  },
  "type": "amino-acid"
}