Canonical Allele Identifier: PA915954981
Gene: GBA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Arg392Gly
CA253101
NM_001005742.2:c.1174C>G