Canonical Allele Identifier: PA915961236
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520679
ClinVar RCV Id: RCV000624791 RCV000723295
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Glu333Val
CA353685960
NM_000158.4:c.998A>T