Canonical Allele Identifier: PA2580107344
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2091882
ClinVar RCV Id: RCV003015826

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Gly250Cys
CA353688067
NM_000158.4:c.748G>T