Canonical Allele Identifier: PA2826089035
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_001165283.1:p.Leu230Val
CA16044027
NM_001171812.2:c.688C>G