Canonical Allele Identifier: PA2825277508
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813341
ClinVar RCV Id: RCV001004134 RCV002282424
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg170His
CA1141729
NM_001005741.2:c.509G>A