Allele Registry

Canonical Allele Identifier: PA915961213

Gene: GBE1 HGNC NCBI

ClinVar Allele:

361403

ClinVar RCV:

RCV000416121

RCV001147052

RCV001147053

RCV001245740

RCV001584110

ClinVar Variation:

374517

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Thr254Ala	CA2499872 NM_000158.4:c.760A>G