Allele Registry

Canonical Allele Identifier: PA2499229114

Gene: GBE1 HGNC NCBI

ClinVar RCV:

RCV001517921

RCV001527499

RCV001527500

RCV001528213

ClinVar Variation:

1168034

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Ile334Val	CA2499809 NM_000158.4:c.1000A>G