Canonical Allele Identifier: PA2826089118
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4306
ClinVar RCV Id: RCV000004548 RCV000041967 RCV001193934 RCV002496255 RCV003137492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Thr313Ile
CA253074
NM_001171812.2:c.938C>T