Canonical Allele Identifier: PA2826089211
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493050
ClinVar RCV Id: RCV000584914 RCV000626624 RCV004024649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Glu378Lys
CA1141565
NM_001171812.2:c.1132G>A