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Canonical Allele Identifier: Get Identifier
Gene: GAMT HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000147.1:p.[Ala55_Lys60delinsValLeuGlnArgGlyPro;Gly61_Gly62insPro;Arg63_Val64delinsGlyGly;Glu66_Val67delinsTrpHis;Phe69_Ala75delinsHisArg;Lys77del;Gln79_Glu80delinsLysGly;Pro82_Glu85delinsGlyGlyAla;Trp87del]
CA2573155798
NM_000156.6:c.164_171del