Canonical Allele Identifier: PA2826089350
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4311
ClinVar RCV Id: RCV000004553 RCV000020153 RCV000762851 RCV000790684 RCV001004108 RCV001836698 RCV004018560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Arg486His
CA234081
NM_001171812.2:c.1457G>A