Canonical Allele Identifier: PA2826089058
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Phe249Leu
CA342719511
NM_001171812.2:c.747C>G
CA342719512
NM_001171812.2:c.747C>A
CA342719553
NM_001171812.2:c.745T>C