Allele Registry

Canonical Allele Identifier: PA221391

Gene: GBA1 HGNC NCBI

ClinVar Allele:

99355

1165456

ClinVar RCV:

RCV000173717

RCV001174722

RCV001249087

RCV001531641

ClinVar Variation:

93448

1176205

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Val414Leu	CA221390 NM_001005741.2:c.1240G>T CA342714108 NM_001005741.2:c.1240G>C