Canonical Allele Identifier: PA915961216
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780
ClinVar RCV Id: RCV000002912 RCV000056143 RCV000433912 RCV001851594
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Phe257Leu
CA115749
NM_000158.4:c.771T>A
CA353688013
NM_000158.4:c.771T>G
CA353688018
NM_000158.4:c.769T>C