Canonical Allele Identifier: PA645388128
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_001005741.1:p.Tyr174Cys
CA1141727
NM_001005741.2:c.521A>G