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
ENSP00000456302.1:p.Cys150Ser
CA234698
ENST00000569958.5:c.449G>C
CA394689686
ENST00000569958.5:c.448T>A