Allele Registry

Canonical Allele Identifier: PA915961274

Gene: GBE1 HGNC NCBI

ClinVar RCV:

RCV000002910

RCV000020161

RCV000210646

RCV001246690

ClinVar Variation:

2779

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Arg515Cys	CA115747 NM_000158.4:c.1543C>T