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
ENSP00000457956.1:p.Asp196Glu
CA254234
ENST00000566983.5:c.588C>G
CA394689458
ENST00000566983.5:c.588C>A