Canonical Allele Identifier: PA2580156602
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2369804
ClinVar RCV Id: RCV003322640 RCV003155523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Arg78Cys
CA1141809
NM_001171812.2:c.232C>T