Canonical Allele Identifier: PA2826089161
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503945
ClinVar RCV Id: RCV003230936

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Ser356Arg
CA30894738
NM_001171812.2:c.1068C>G
CA30894739
NM_001171812.2:c.1068C>A
CA342714654
NM_001171812.2:c.1066A>C