Allele Registry

Canonical Allele Identifier: PA253093

Gene: GBA1 HGNC NCBI

ClinVar RCV:

RCV000004561

ClinVar Variation:

4317

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Trp351Cys	CA253092 NM_001005741.2:c.1053G>T CA342717576 NM_001005741.2:c.1053G>C