Allele Registry

Canonical Allele Identifier: PA915961222

Gene: GBE1 HGNC NCBI

ClinVar RCV:

RCV000502833

RCV000674419

RCV001770384

RCV002509416

RCV002524352

ClinVar Variation:

437422

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Arg262His	CA2499857 NM_000158.4:c.785G>A