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
ENSP00000456302.1:p.Thr135Ser
CA340691
ENST00000569958.5:c.404C>G
CA394689486
ENST00000569958.5:c.403A>T