Canonical Allele Identifier: PA645388221
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392923
ClinVar RCV Id: RCV000443344

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Cys287Phe
CA16603437
NM_001005741.2:c.860G>T