Canonical Allele Identifier: PA2827341294
Gene: GBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241329
ClinVar RCV Id: RCV000229631 RCV001311779 RCV001331163 RCV001848008
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317589.1:p.Arg518Trp
CA5050370
NM_001330660.2:c.1552C>T