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
NP_000294.1:p.Phe68Leu
CA394695851
NM_000303.3:c.202T>C
CA394695858
NM_000303.3:c.204T>A
CA394695859
NM_000303.3:c.204T>G