Canonical Allele Identifier: PA2826089110
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4317
ClinVar RCV Id: RCV000004561

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Trp302Cys
CA253092
NM_001171812.2:c.906G>T
CA342717576
NM_001171812.2:c.906G>C