Canonical Allele Identifier: PA915961281
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2782
ClinVar RCV Id: RCV000002915 RCV000020162 RCV000150107 RCV001043400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg524Gln
CA115753
NM_000158.4:c.1571G>A