Allele Registry

Canonical Allele Identifier: PA253058

Gene: GBA1 HGNC NCBI

ClinVar Allele:

19330

ClinVar RCV:

RCV000004518

RCV000004519

RCV000020154

RCV001250522

RCV001781178

ClinVar Variation:

4291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Arg159Gln	CA253057 NM_001005741.2:c.476G>A