Canonical Allele Identifier: PA253119
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4335

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Asp395Asn
CA253118
NM_001171811.2:c.1183G>A