Canonical Allele Identifier: PA145525
Gene: GBA2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065995.1:p.Asp594His
CA145524
NM_020944.3:c.1780G>C