Canonical Allele Identifier: PA915961282
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456517
ClinVar RCV Id: RCV000526226 RCV002483363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg524Gly
CA353684655
NM_000158.4:c.1570C>G