Canonical Allele Identifier: PA915961213
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374517
ClinVar RCV Id: RCV000416121 RCV001147052 RCV001245740 RCV001147053 RCV001584110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Thr254Ala
CA2499872
NM_000158.4:c.760A>G