Canonical Allele Identifier: PA915961271
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180651
ClinVar RCV Id: RCV000157612 RCV000519980 RCV000692455 RCV001275349 RCV001826858 RCV002252009 RCV004535028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg515His
CA185932
NM_000158.4:c.1544G>A