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.Val129Leu
CA394696572
ENST00000682008.1:c.385G>T
CA394696573
ENST00000682008.1:c.385G>C