Allele Registry

Canonical Allele Identifier: PA915961220

Gene: GBE1 HGNC NCBI

ClinVar Allele:

17830

ClinVar RCV:

RCV000002925

RCV000501317

RCV001826408

RCV002512687

ClinVar Variation:

2791

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Arg262Cys	CA115764 NM_000158.4:c.784C>T