Canonical Allele Identifier: PA2826088674
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4318
ClinVar RCV Id: RCV000004562 RCV000180535 RCV001197976 RCV001248922 RCV002504743
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Gly277Arg
CA221381
NM_001171811.2:c.829G>A
CA342716961
NM_001171811.2:c.829G>C