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Canonical Allele Identifier: Get Identifier
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.[Gly74_Phe76delinsValPro;Arg78_Thr82delinsAlaAlaMet;Ser84_Met92delinsValHisAlaVal;Pro94_Thr100delinsAsp;Thr102_Gly103delinsTrpSer]
CA1141815
NM_001005742.2:c.219del