Canonical Allele Identifier: PA658746973
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493050
ClinVar RCV Id: RCV000584914 RCV000626624 RCV004024649
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Glu427Lys
CA1141565
NM_001005741.2:c.1279G>A