Canonical Allele Identifier: PA658654705
Gene: GBE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.3:p.Ser378Arg
CA2499775
NM_000158.3:c.1134T>G
CA353685641
NM_000158.3:c.1134T>A
CA353685646
NM_000158.3:c.1132A>C