Canonical Allele Identifier: PA2826089126
Gene: GBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Glu316Lys
CA028579
NM_001171812.2:c.[946G>A;388G>C]
CA275447
NM_001171812.2:c.946G>A