Canonical Allele Identifier: PA915961202
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235761
ClinVar RCV Id: RCV000224885 RCV001034188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Lys116Glu
CA2499996
NM_000158.4:c.346A>G