Canonical Allele Identifier: PA221402
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93453
ClinVar RCV Id: RCV000179353 RCV001004135 RCV001249029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg170Cys
CA221401
NM_001005741.2:c.508C>T