Canonical Allele Identifier: PA2827341315
Gene: GBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92166
ClinVar RCV Id: RCV000077800

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317589.1:p.Asp594His
CA145524
NM_001330660.2:c.1780G>C