Canonical Allele Identifier: PA915954908
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93459
ClinVar RCV Id: RCV000589250 RCV001004128 RCV000675275 RCV002468565 RCV003448261
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Gly241Arg
CA221411
NM_001005742.2:c.721G>A
CA342721605
NM_001005742.2:c.721G>C