Canonical Allele Identifier: PA915961240
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444613
ClinVar RCV Id: RCV000513273 RCV000666996 RCV001080686 RCV001149393 RCV004535652
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Ser378Arg
CA2499775
NM_000158.4:c.1134T>G
CA353685641
NM_000158.4:c.1134T>A
CA353685646
NM_000158.4:c.1132A>C