Allele Registry

Canonical Allele Identifier: PA645388221

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000443344

ClinVar Variation:

392923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Cys287Phe	CA16603437 NM_001005741.2:c.860G>T