Canonical Allele Identifier: PA221395
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4295

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg502Cys
CA221394
NM_001005741.2:c.1504C>T