Canonical Allele Identifier: PA253111
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4327
ClinVar RCV Id: RCV000004572 RCV000004571 RCV000055772 RCV000723428 RCV001004116 RCV001270486 RCV002482828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Gly416Ser
CA253107
NM_001005742.2:c.1246G>A