Canonical Allele Identifier: PA2825277699
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2205183
ClinVar RCV Id: RCV004073721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Ile158Met
CA342724779
NM_001005742.2:c.474C>G