Canonical Allele Identifier: PA2826088938
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280972
ClinVar RCV Id: RCV000321615 RCV001249028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Tyr125Cys
CA1141727
NM_001171812.2:c.374A>G