Canonical Allele Identifier: PA915961294
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425301
ClinVar RCV Id: RCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV002528222 RCV003330722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg565Trp
CA2499591
NM_000158.4:c.1693C>T