Canonical Allele Identifier: PA915961233
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371439
ClinVar RCV Id: RCV000410814 RCV000490240 RCV000529291 RCV001145097 RCV001172459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Tyr329Cys
CA2499826
NM_000158.4:c.986A>G