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
ENSP00000454284.1:p.Lys63Asn
CA394696087
ENST00000566540.5:c.189G>C
CA394696088
ENST00000566540.5:c.189G>T