Canonical Allele Identifier: PA2826088692
Gene: GBA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Arg305Gly
CA253101
NM_001171811.2:c.913C>G