Canonical Allele Identifier: PA2573061597
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338989
ClinVar RCV Id: RCV001823443 RCV002542729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Tyr245His
CA353688105
NM_000158.4:c.733T>C