Canonical Allele Identifier: PA915954920
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375274
ClinVar RCV Id: RCV000416353
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Leu279Val
CA16044027
NM_001005742.2:c.835C>G