Allele Registry

Canonical Allele Identifier: PA915961306

Gene: GBE1 HGNC NCBI

ClinVar Allele:

17827

ClinVar RCV:

RCV000002922

RCV000056098

RCV001092351

RCV001851596

ClinVar Variation:

2788

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.His628Arg	CA115760 NM_000158.4:c.1883A>G