Canonical Allele Identifier: PA253110
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4327

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Gly416Ser
CA253107
NM_001005741.2:c.1246G>A