Allele Registry

Canonical Allele Identifier: PA915961236

Gene: GBE1 HGNC NCBI

ClinVar RCV:

RCV000624791

RCV000723295

ClinVar Variation:

520679

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Glu333Val	CA353685960 NM_000158.4:c.998A>T