Canonical Allele Identifier: PA2573061608
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338988
ClinVar RCV Id: RCV001823442

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Gly534Val
CA353684592
NM_000158.4:c.1601G>T