Canonical Allele Identifier: PA915961204
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 733683
ClinVar RCV Id: RCV000909016 RCV001275862 RCV002225767 RCV004533480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Leu117Pro
CA2499995
NM_000158.4:c.350T>C