Canonical Allele Identifier: PA2826089123
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4318
ClinVar RCV Id: RCV000004562 RCV000180535 RCV001197976 RCV001248922 RCV002504743
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Gly315Arg
CA221381
NM_001171812.2:c.943G>A
CA342716961
NM_001171812.2:c.943G>C