Canonical Allele Identifier: PA2826088840
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4295
ClinVar RCV Id: RCV000004528 RCV000004529 RCV000004530 RCV000004531 RCV000020151 RCV000079343 RCV000762852 RCV001004110 RCV004018558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Arg415Cys
CA221394
NM_001171811.2:c.1243C>T