Canonical Allele Identifier: PA2825068685
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3233771
ClinVar RCV Id: RCV004527051

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ser77Arg
CA1141810
NM_000157.4:c.231C>A
CA342727418
NM_000157.4:c.231C>G
CA342727434
NM_000157.4:c.229A>C