Canonical Allele Identifier: PA146981
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93450
ClinVar RCV Id: RCV000079341 RCV003129772
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Ala495Pro
CA146980
NM_001005741.2:c.1483G>C
CA2586967431
NM_001005741.2:c.1483_1497delinsCCTGTTGTGGTCGTC