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.Phe117Leu
CA245915
ENST00000566983.5:c.349T>C
CA394696677
ENST00000566983.5:c.351C>A
CA394696678
ENST00000566983.5:c.351C>G