Canonical Allele Identifier: PA2826089328
Gene: GBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Asn452Lys
CA342710805
NM_001171812.2:c.1356C>G
CA342710824
NM_001171812.2:c.1356C>A