Canonical Allele Identifier: PA915961306
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2788
ClinVar RCV Id: RCV000002922 RCV000056098 RCV001092351 RCV001851596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.His628Arg
CA115760
NM_000158.4:c.1883A>G