Canonical Allele Identifier: PA915961220
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2791
ClinVar RCV Id: RCV000002925 RCV000501317 RCV001826408 RCV002512687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg262Cys
CA115764
NM_000158.4:c.784C>T