Canonical Allele Identifier: PA253095
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4319
ClinVar RCV Id: RCV000004563
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Cys381Gly
CA253094
NM_001005741.2:c.1141T>G