Canonical Allele Identifier: PA234082
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4311
ClinVar RCV Id: RCV000004553 RCV000020153 RCV000762851 RCV000790684 RCV001004108 RCV001836698 RCV004018560
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg535His
CA234081
NM_001005741.2:c.1604G>A