Allele Registry

Canonical Allele Identifier: PA915961212

Gene: GBE1 HGNC NCBI

ClinVar Allele:

296336

ClinVar RCV:

RCV000272591

RCV000329970

RCV002523458

RCV004530401

ClinVar Variation:

346793

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Met241Val	CA2499874 NM_000158.4:c.721A>G