Allele Registry

Canonical Allele Identifier: PA915961285

Gene: GBE1 HGNC NCBI

ClinVar Allele:

291672

ClinVar RCV:

RCV000329434

RCV001828341

RCV001850838

ClinVar Variation:

346787

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Tyr535Cys	CA10616731 NM_000158.4:c.1604A>G