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
ENSP00000456774.1:p.Asp14Glu
CA394694857
ENST00000566604.5:c.42T>A
CA394694859
ENST00000566604.5:c.42T>G