Allele Registry

Canonical Allele Identifier: PA915961316

Gene: GBE1 HGNC NCBI

ClinVar Allele:

296321

ClinVar RCV:

RCV000297840

RCV000357256

RCV000966281

RCV001354590

ClinVar Variation:

346783

HGVS (amino-acid)	Matching Registered Transcripts
NP_000149.4:p.Arg679Cys	CA2499484 NM_000158.4:c.2035C>T