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
ENSP00000507849.1:p.Phe122Leu
CA394696525
ENST00000682008.1:c.364T>C
CA394696530
ENST00000682008.1:c.366C>A
CA394696531
ENST00000682008.1:c.366C>G