Allele Registry

Canonical Allele Identifier: PA221408

Gene: GBA1 HGNC NCBI

ClinVar Allele:

99362

ClinVar RCV:

RCV000079351

RCV000243066

RCV000588402

RCV004019535

ClinVar Variation:

93457

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Trp223Arg	CA221407 NM_001005741.2:c.667T>C CA342722277 NM_001005741.2:c.667T>A