Canonical Allele Identifier: PA221404
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93455
ClinVar RCV Id: RCV000179793 RCV000780284 RCV001004133
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg209Cys
CA221403
NM_001005741.2:c.625C>T