Canonical Allele Identifier: PA253102
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4323
ClinVar RCV Id: RCV000004567
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg392Gly
CA253101
NM_001005741.2:c.1174C>G