Canonical Allele Identifier: PA915961288
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2785
ClinVar RCV Id: RCV000002919 RCV000056095 RCV003764519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.His545Arg
CA115756
NM_000158.4:c.1634A>G