Canonical Allele Identifier: PA1139674522
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Phe298Leu
CA342719511
NM_001005742.2:c.894C>G
CA342719512
NM_001005742.2:c.894C>A
CA342719553
NM_001005742.2:c.892T>C