Canonical Allele Identifier: PA2573163177
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1354970
ClinVar RCV Id: RCV001866684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Lys115Glu
CA353689001
NM_000158.4:c.343A>G