Canonical Allele Identifier: PA2826089168
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93447
ClinVar RCV Id: RCV000079335 RCV000244995 RCV000416597 RCV001196545 RCV001249086
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Thr359Met
CA221388
NM_001171812.2:c.1076C>T