Canonical Allele Identifier: PA2826088569
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21072
ClinVar RCV Id: RCV000020157 RCV000625849 RCV001004129 RCV002504814 RCV003237414 RCV004018648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Ser148Pro
CA341581
NM_001171811.2:c.442T>C