Canonical Allele Identifier: PA915961234
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2777
ClinVar RCV Id: RCV000002907 RCV000020163 RCV000150105 RCV000304728 RCV000493505 RCV000555363 RCV000763520 RCV000991160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Tyr329Ser
CA115743
NM_000158.4:c.986A>C