Canonical Allele Identifier: PA915961285
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346787
ClinVar RCV Id: RCV000329434 RCV001828341 RCV001850838
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Tyr535Cys
CA10616731
NM_000158.4:c.1604A>G