Canonical Allele Identifier: PA221418
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4328
ClinVar RCV Id: RCV000004573 RCV000020159 RCV000079357 RCV000762855 RCV001004125 RCV001836699 RCV003225017 RCV004554584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg296Gln
CA221417
NM_001005741.2:c.887G>A