Canonical Allele Identifier: PA915961210
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2778
ClinVar RCV Id: RCV000002909 RCV000056134 RCV000210781 RCV001050904
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Leu224Pro
CA115745
NM_000158.4:c.671T>C