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
ENSP00000508230.1:p.Thr18Ser
CA7893858
ENST00000683094.1:c.53C>G
CA394694888
ENST00000683094.1:c.52A>T