Canonical Allele Identifier: PA2825068802
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198757
ClinVar RCV Id: RCV000180196 RCV001248862 RCV002500517
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ile299Thr
CA275428
NM_000157.4:c.896T>C