Canonical Allele Identifier: PA2580107330
Gene: GBE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Lys143Asn
CA2499980
NM_000158.4:c.429G>T
CA353688812
NM_000158.4:c.429G>C