Canonical Allele Identifier: PA2826088975
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 593191
ClinVar RCV Id: RCV000728161
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Trp174Cys
CA342722244
NM_001171812.2:c.522G>T
CA342722245
NM_001171812.2:c.522G>C