Canonical Allele Identifier: PA2580107338
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714355
ClinVar RCV Id: RCV002304347
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Lys192Gln
CA353688464
NM_000158.4:c.574A>C