Canonical Allele Identifier: PA094387
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4310
ClinVar RCV Id: RCV000004552 RCV001171764
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Gly517Ser
CA253081
NM_000157.4:c.1549G>A