Canonical Allele Identifier: PA915954969
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496080
ClinVar RCV Id: RCV000587644 RCV002497235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Trp351Ser
CA342717600
NM_001005742.2:c.1052G>C