Canonical Allele Identifier: PA915961274
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2779
ClinVar RCV Id: RCV000002910 RCV000020161 RCV001246690 RCV000210646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg515Cys
CA115747
NM_000158.4:c.1543C>T