Canonical Allele Identifier: PA915954891
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4314
ClinVar RCV Id: RCV000004557 RCV000004558 RCV000020156 RCV000723402 RCV001004131 RCV002504742
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Asn227Ser
CA253086
NM_001005742.2:c.680A>G