Canonical Allele Identifier: PA2825277483
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 642539
ClinVar RCV Id: RCV000796019 RCV001004136 RCV001775006 RCV002249507 RCV002495045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Thr75del
CA1141812
NM_001005741.2:c.222_224del