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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.[Ala94_Ile100delinsAspProArgPhe;Tyr102_Cys103delinsGlnLeu;Tyr106_Lys111delinsGlu;Pro113_Ile120delinsHisCys;Phe122_Arg123del;Gly125del]
CA2575906420
ENST00000268261.9:c.281_285del