Canonical Allele Identifier: PA028602
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242810
ClinVar RCV Id: RCV000589369 RCV001004126 RCV001248861 RCV001329068 RCV001195955 RCV002247685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.His294Gln
CA028590
NM_001005741.2:c.882T>G
CA342719637
NM_001005741.2:c.882T>A