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
ENSP00000507849.1:p.Thr118Ser
CA394696500
ENST00000682008.1:c.352A>T
CA394696503
ENST00000682008.1:c.353C>G