This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PMM2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506774.1:p.Leu64Phe
CA394696517
ENST00000682393.1:c.192G>C
CA394696518
ENST00000682393.1:c.192G>T