Canonical Allele Identifier: PA2825068721
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198110
ClinVar RCV Id: RCV000179352 RCV003323429
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Met162Thr
CA246603
NM_000157.4:c.485T>C