Canonical Allele Identifier: PA2826088708
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503945
ClinVar RCV Id: RCV003230936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Ser318Arg
CA30894738
NM_001171811.2:c.954C>G
CA30894739
NM_001171811.2:c.954C>A
CA342714654
NM_001171811.2:c.952A>C