Canonical Allele Identifier: PA2826088739
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_001165282.1:p.Glu340Lys
CA1141565
NM_001171811.2:c.1018G>A