Canonical Allele Identifier: PA2741818673
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Ser405Arg
CA30894738
NM_001005742.2:c.1215C>G
CA30894739
NM_001005742.2:c.1215C>A
CA342714654
NM_001005742.2:c.1213A>C