Canonical Allele Identifier: PA2826089060
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198757
ClinVar RCV Id: RCV000180196 RCV001248862 RCV002500517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Ile250Thr
CA275428
NM_001171812.2:c.749T>C