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
ENSP00000507262.1:p.Gln97His
CA394696176
ENST00000683274.1:c.291A>C
CA394696177
ENST00000683274.1:c.291A>T