Canonical Allele Identifier: PA275448
Gene: GBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Glu365Lys
CA028579
NM_001005741.2:c.[1093G>A;535G>C]
CA275447
NM_001005741.2:c.1093G>A