Canonical Allele Identifier: PA2580107343
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2012507
ClinVar RCV Id: RCV002843171

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Met238Thr
CA353688152
NM_000158.4:c.713T>C