Canonical Allele Identifier: PA645388171
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281587
ClinVar RCV Id: RCV000275601 RCV001004132 RCV002290968 RCV003329161
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Leu213Phe
CA1141709
NM_001005741.2:c.637C>T