Canonical Allele Identifier: PA2826089127
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420153
ClinVar RCV Id: RCV000487271 RCV001004120 RCV001584196 RCV001249080 RCV003419796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Arg319Cys
CA1141619
NM_001171812.2:c.955C>T