Allele Registry

Canonical Allele Identifier: PA915961218

Gene: GBE1 HGNC NCBI

ClinVar Variation Id: 567213

ClinVar RCV Id: RCV000687227

ClinVar Variation Id: 2945833

ClinVar RCV Id: RCV003803927

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Ser261Arg	CA353687585 NM_000158.4:c.783C>G CA353687586 NM_000158.4:c.783C>A CA353687996 NM_000158.4:c.781A>C