Canonical Allele Identifier: PA2826088675
Gene: GBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Glu278Lys
CA028579
NM_001171811.2:c.[832G>A;274G>C]
CA275447
NM_001171811.2:c.832G>A