Canonical Allele Identifier: PA2826088873
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242383
ClinVar RCV Id: RCV000417294 RCV001175549 RCV001782727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Arg448Cys
CA1141476
NM_001171811.2:c.1342C>T