Canonical Allele Identifier: PA915961199
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195023
ClinVar RCV Id: RCV000175535 RCV001469389 RCV004020080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Lys57Arg
CA241296
NM_000158.4:c.170A>G