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Canonical Allele Identifier: Get Identifier
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.[Gly101_Val111delinsAlaGlnGluSerAspIleThrSerSerGlyTyr;Met113_Phe118delinsTrpProAlaValThr;Ile120_Tyr123delinsProSerAlaPro;Tyr125_Asp127delinsProMetGln;Asp130delinsLeuMet]
CA2648253724
NM_001171812.2:c.302del