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Canonical Allele Identifier: Get Identifier
Gene: PMM2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000268261.4:p.[Ile110_Lys111delinsArgGlu;Pro113_Lys115delinsAsnSerArg;Gly117_Met126delinsArgGlyValLeuSer;Val129del;Pro131_Ile132delinsGluMet;Arg134_Ser135del;Ser137_Gln138del;Glu140del]
CA2206133217
ENST00000268261.9:c.328_329insGGGAA