Canonical Allele Identifier: PA915961195
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 441107
ClinVar RCV Id: RCV000509180 RCV000513618 RCV000764515 RCV000704354 RCV001149608 RCV003403196 RCV004535645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Met5Ile
CA2500119
NM_000158.4:c.15G>A
CA353687088
NM_000158.4:c.15G>T
CA353687089
NM_000158.4:c.15G>C