Canonical Allele Identifier: PA094546
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4288
ClinVar RCV Id: RCV000004510 RCV000004512 RCV000004509 RCV000004511 RCV000004513 RCV000020150 RCV000413257 RCV000626625 RCV001004112 RCV001197164 RCV002476924 RCV004018555 RCV003398445 RCV003987311
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Leu483Pro
CA116765
NM_000157.4:c.1448T>C