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Canonical Allele Identifier: Get Identifier
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.[Asn11_Thr13delinsLysSerHis;Thr15_Lys31delinsHisArgProAlaThrAspProAlaAlaArgThrGluValProGluSerGlu;Phe33_Gly34delinsIleTrpArg;Ala36_Ala40delinsHisAspArgCysCys]
CA2586967506
NM_001171811.2:c.32dup