Canonical Allele Identifier: PA915961316
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346783
ClinVar RCV Id: RCV000297840 RCV000357256 RCV001354590 RCV000966281
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg679Cys
CA2499484
NM_000158.4:c.2035C>T