Canonical Allele Identifier: PA253062
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4294

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Asp448Val
CA253061
NM_001005741.2:c.1343A>T