Canonical Allele Identifier: PA915961254
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346789
ClinVar RCV Id: RCV000278997 RCV000336211 RCV000941062 RCV004021930
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Tyr469Cys
CA2499676
NM_000158.4:c.1406A>G