Canonical Allele Identifier: PA2825277514
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2612233
ClinVar RCV Id: RCV004351992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Pro189Gln
CA342723760
NM_001005741.2:c.566C>A