Canonical Allele Identifier: PA915961237
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224994
ClinVar RCV Id: RCV000210600 RCV001828050 RCV002515586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg355His
CA358066
NM_000158.4:c.1064G>A