Canonical Allele Identifier: PA2825277677
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 806230
ClinVar RCV Id: RCV000994119 RCV001832312 RCV001779099 RCV002479164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Arg83Cys
CA1141805
NM_001005742.2:c.247C>T