Canonical Allele Identifier: PA115750
Gene: GBE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.3:p.Phe257Leu
CA115749
NM_000158.3:c.771T>A
CA353688013
NM_000158.3:c.771T>G
CA353688018
NM_000158.3:c.769T>C