Canonical Allele Identifier: PA2825069547
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3098841
ClinVar RCV Id: RCV004395206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Ala619Val
CA353686152
NM_000158.4:c.1856C>T