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Canonical Allele Identifier: Get Identifier
Gene: GAMT HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000403536.2:p.[Leu133_Tyr137delinsProValArgHisVal;Pro138_Leu139insThr;Ser140_Trp144delinsGlyGlyAspLeuAla;His147_Pro162delinsProValGlnLeuHisGlnGluProArgLeuSerProAlaGluAla]
CA2576548659
ENST00000447102.8:c.397dup